oral pathology in children with dysmorphic features syndromes · malformation is a structural...
TRANSCRIPT
![Page 1: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/1.jpg)
Oral pathology in children with
dysmorphic features
Syndromes
![Page 2: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/2.jpg)
Dysmorphic features are developmental
disabilities including the maxillofacial area,
due to:
Congenital disorders
Birth defects
Genetic syndromes
Electronic data base of
syndromes - www.
possum,net.au
![Page 3: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/3.jpg)
Dysmorphic features form the
group of malformations
More often, they
are rare diseases
![Page 4: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/4.jpg)
Rare diseases
• affect fewer than 1 in 2 000 people. Rare diseases
• genetic, often chronic and life-threatening. Over 50% of affected are children.
In most cases, the reason therefore is
• According to the World Health Organization in Bulgaria are affected by them a total of about 400,000 people.
Known are over 7000 different types
of rare diseases.
• The treatment does not affect the genetic cause and correct the consequences.
Diseases are often chronic and severe.
![Page 5: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/5.jpg)
syndromes
A term used in medicine and psychology;
We are talking about a syndrome, when group of symptoms are observed, always together;
Syndrome may be specific disorder, disease, or condition.
![Page 6: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/6.jpg)
The syndrome is:
A combination of clinical signs and
symptoms,
which are always found together, characterize the
disease;
The syndrome is usually
congenital or genetic disease.
![Page 7: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/7.jpg)
Syndrome and associated factors
We have to
distinguish :
clinical signs forming syndrome;
And secondary symptoms,
which occurs in large% of patients with a particular
disease, but is not mandatory.
![Page 8: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/8.jpg)
• multiple defects with common pathogenesis derived from hereditary or congenital reasons.
The syndromes are:
• recognizable models of various malformations;The most
syndromes are:
but there are syndromes that are not malformations!
relationship syndrome malformation
![Page 9: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/9.jpg)
In many syndromes a cognitive
impairment occur
Cognitive disorders of mind include
issues related to:
memory, Language
logical thinking,attention,
perception, imagination,
ability to make decisions and
others.
![Page 10: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/10.jpg)
Some syndromes are part of
oral pathology in childhood
Very often occur in infancy, and according to the severity of the disability children with such diseases do not survive long.
![Page 11: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/11.jpg)
Important for dentist!
The common between these diseases is that oral pathology is part of a diverse systemic pathology that affects both physical and mental development of the child.
![Page 12: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/12.jpg)
Most syndromes with oral manifestation
are caused by genetic defects
• They are chromosomal abnormalities
Genetic defects are most
commonly in the child
development
• in ectodermic structures and collagen synthesis.
More often there are defects
![Page 13: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/13.jpg)
Tooth structure,Teeth count,
The form of the teeth,
Often combined with periodontal disabilities,
and other defects associated with
different body parts.
The oral anomalies in the syndromes
affect
![Page 14: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/14.jpg)
Developmental disabilities are
divided into three main groups
malformations
deformitiesdisintegration
![Page 15: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/15.jpg)
Malformation is a structural defect in the body due to abnormal embryonic or fetal development.
![Page 16: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/16.jpg)
Causes of malformations
Poorly formed tissues - primary
structural abnormalities;
Poor prognosis for a normal growth in a
particular area;
Incomplete morphogenesis -
agenezis, hypoplasia;
Impaired apoptosis -spina bifida, syndactyly.
Incomplete migration
ectomesenhyme -syndrome Di Georgi
![Page 17: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/17.jpg)
An example of formation of defects in a Di
George syndrome
Impaired migration of ectomesenchym;
Migration of neural crests(ectomesenchym) stimulate organs and tissues differentiation;
Maxillofacial growth is part of them.
![Page 18: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/18.jpg)
Specific faces: low set ears, wide distance between the eyes – result of malformations.
![Page 19: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/19.jpg)
Di Georgi’s syndrome
Tetrad of Fallot
Hypoparathyroidism- low calcium and
high phosphorus in the blood.
Thymus dysfunction - immune defects, frequent infections.
Cleft palate,
Impaired mental and physical
development and others.
![Page 20: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/20.jpg)
• Unusual forces act on normal tissue during fetal development.
Deformities
• Destruction of normal tissue caused by vascular, infectious, physical reasons.
Disintegration
![Page 21: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/21.jpg)
The cause of all these
developmental disabilities are
genetic defects
![Page 22: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/22.jpg)
Basic philosophy of modern molecular
biology say:
The properties of the cells, tissues and
organisms are determined by the properties of their
proteins!
• Genes control:the structure of proteins;the time of their synthesis;the required amount;RNA is mediator.
![Page 23: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/23.jpg)
Genes are grouped into DNA strands
that form chromosomes
• XX - female and Y – male sex;
• 44-autosomal;
Person has 46 chromosomes
containing 80,000 genes:
• 22 autosomalpairs
• 1 sex pair
23 pairs of chromosomes are formed:
![Page 24: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/24.jpg)
Each cell contains a complete and accurate
copy of the genomic DNA;
Different cells express different regions of the
genomic DNA;
Each cell knows when, who gene to be
expressed.
![Page 25: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/25.jpg)
Genetic syndromes
Chromosomal defects may be the
cause;
Defects in single gene or
multifactorial gene defects may be
observed;
Autosomal dominant,
autosomal recessive sex-linked
inheritance occur;
Secondary gene defects influenced by the environment
may occur, also.
![Page 26: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/26.jpg)
Chromosomal mutations may
be:
Numerical chromosomal aberrations
• trisomy, monosomy, polysomies;Aneuploidy
• inappropriate segregation of chromosomes during mitosis - the defects are in all tissues;Mosaicism
• triplets, tetraploidy
• incorrect cell division - often leads to pregnancy.
Poliploidy
![Page 27: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/27.jpg)
Structural chromosomal aberrations
Cleavage of the chromosome and the change of its normal
configuration
•Deletions
•Duplications
•Ring- chromosome
• Inversions and others.
Inside chromosomal
Inter chromosomal
Chromosome fragility;
With the absence of chromosomal material
![Page 28: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/28.jpg)
Different gene mutations may be
observed
• More than one copy of a chromosome in the genome;
Duplications
• Loss of chromosome segment;Deletions
• Flip the beginning and end;Inversions
• Detached segment is attached to another chromosome.
Translocations
![Page 29: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/29.jpg)
Besides hereditary and congenital mutations,
there are environment factors causing
mutations in the life
Physical - X-rays and radiation;
Chemical -pesticides, heavy
metals, anesthetics and the like.
Biological -oncogenic viruses
![Page 30: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/30.jpg)
Besides the development, mutations can
also affect physiology
Mutations affecting the structural proteins:
• Collagen - ¼ of the proteins
• Family of collagen genes -35 gene
On the enzymes regulating processes in
the body;
Accumulation of metabolic products.
Reduced activity of the receptor proteins.
![Page 31: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/31.jpg)
Dysmorphic features -
malformations
![Page 32: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/32.jpg)
Wolf-Hirschhorn Syndrome
4chr. deletion
Common features:
Microcephaly
Broad nose
Ocular anomalies
Oral manifestations:
Cleft palate - 40%
Cleft lip and palate - 10%
Micrognathia
short philtrum
lips downward angle
![Page 33: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/33.jpg)
Cri-du-Chat
Syndrome
5 chr. deletion
Common feature:
• like a cat scream
• microcephaly
• round face
• low ear shells
• severe psychomotor problems
• mental retardation
• hypotension
• hypertelorism
• early mortality
Frequency - 1: 20000
It occurs in 1% of children in institutions
![Page 34: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/34.jpg)
Cri du chat
syndrome –
oral symptomes
Macrognathia;
Maloclusion –overjet
Cleft lips and palate
![Page 35: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/35.jpg)
Patau Syndrome
Trisomy 13
Common feature
• Microcephaly
• Microphthalmia
• Polydactyly
• Mortality - 86% to 1d.
Oral symptomes
• Micrognathia - 45%
• Cleft lip
• Agenesis of the frontal alveolar upper jaw
![Page 36: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/36.jpg)
Prader-Willi Syndrome
15chr. deletion
General characteristics:
• Hypertension, obesity, small limbs; hyperpigmentation; diabetes;
Oral symptoms
• dental caries
• enamel hypoplasia
• maloclusion , calculus,
• decreased and viscous saliva,
• gingivitis;
• microdonthia
• high palate
![Page 37: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/37.jpg)
Prader-Willi syndrome (PWS)
1 : 12.000 to 15.000
Oral manifestations,also:
• Reduced salivation;
• Low pH, buf. capacity;
• Emotional and behavioral problems;
• Oral mucosal lesions;
• common candidiasis
• edema of lower lip.
![Page 38: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/38.jpg)
Angelman Syndrome or
„Happy Puppet Syndrome“
15chr. deletion
Oral symptoms:
• macroglossia;
• drooling;
• prognathia;
• macrostomia
• tremas
![Page 39: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/39.jpg)
Angelman syndrome
Happy puppet syndrome - often
because of causeless laughter and
uncontrollable movements of the arms,
against the background of mental problems and
ataxia.
![Page 40: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/40.jpg)
Edwards Syndrome
Trisomy 18
General characteristics
• Convexity of of the occipital part;
• Short palpebral fissures;
• Characteristic thumb;
Oral symptoms
• micrognathia;
• high palate;
![Page 41: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/41.jpg)
Syndrome of fragile X
chromosome
The most common cause of
mental retardation;
The most common cause of
autism;
1: 4000 boys; 1: 8000 girls;
mutation of the FMR1 gene;
convex forehead
big ears;
apart eyes.
![Page 42: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/42.jpg)
Syndrome of fragile X
chromosome
Oral symptoms
• high and narrow palate;
• progeny;
• crossbite,
![Page 43: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/43.jpg)
Klinefelter syndrome
47 chromosomes
observed;
The 47th is XX;
It may be inherited, but may
be innate also;
Recognizable features not
detected at birth;
It affects only men and no
mental deviation occur;
osteoporosis; wide pelvis;
testicular atrophy are
observed.
Oral manifestations:
progenia; large tooth crowns; taurodontizm;
![Page 44: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/44.jpg)
Trizomiya 21 - Down Syndrome
Oral characteristics:
Enamel hypoplasia -
temporary teeth;
Periodontal pathology - 90% and 30% ANUG
Hypoplastic sinuses;
Hypodontia – of 8, 7, 2th teeth;
calculus, tooth decay, reduced
salivation;Taurodontism;
Maloclusion -cross and open
bite;
Macroglossia and fissured
tongue;
Dry and chapped lips –
lips fissures
![Page 45: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/45.jpg)
Down syndrome - symptoms
Flat occipital region;
Brachydactyly - short fingers,
clinodactyly -curved fifth
finger.
![Page 46: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/46.jpg)
Down syndrome
Mental retardation;
White spots around the
iris;
Multiple immune defects;
Cheilitis; Blepharitis.
![Page 47: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/47.jpg)
Down syndrome
Hypoplasiaof the teeth;
Often aggressive periodontitis.
![Page 48: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/48.jpg)
Syndromes due to defects in
single gene
![Page 49: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/49.jpg)
Neurofibromatosis (NF-I)
Common symptoms:
Multiple spots -"cafe-au-lait"
Multiple neurofibromas
Bone turnover.
![Page 50: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/50.jpg)
Neurofibromatosis (NF-I) -
Oral symptoms
Expanding fungiform papillae;
In oral fibromatosis –macroglossia
Hypoplasia of the oral soft
tissues;
Bone hypoplasia;
Malposition of teeth;
Wide and low situated
mandibular canal.
![Page 51: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/51.jpg)
Neurofibromatosis (NF-I)
• Wide bone defect in the left side of the upper jaw;
• Wide mandibular canal in the same area.
1 fig.
• 10 year child;
• Bone defect on the left shoulder of the lower alveolar jaw.
2 Fig.
![Page 52: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/52.jpg)
Tuberous
Sclerosis
• Angiofibromas
• fibromas under the nails;
• convulsions, epilepsy;
• mental retardation.
Common features
• gingival fibromatosis – epulis;
• enamel hypoplasia
Oral symptoms:
![Page 53: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/53.jpg)
Tuberous Sclerosis
Enamel hypoplasia
Growth in different organs;
Epilepsy, learning disabilities,
autistic spectrum disorders;
and kidney problems may
occur.
![Page 54: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/54.jpg)
Apert syndrome – disease with
acrocephalo - syndactyly
Congenital malformation of the
skull, face, hands and feet;
This is of the group of defects in brachial
arcs - of pharyngeal arch (lower, upper
alveolar jaws);
At the extremities -impaired cellular apoptosis, which
releases the fingers -linked fingers.
![Page 55: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/55.jpg)
Apert syndrome - oral
symptoms
High palate with lateral swellings
heavy maloclusion -
open bite;
Hypoplasia of teeth in
half persons;
Progenia;
Decreased nazofaringeal
distance.
![Page 56: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/56.jpg)
Stickler Syndrome
Oral symptoms
• Hypoplasia of the face
• Long palate filtrum;
• Mobile soft palate.
General symptoms
• Myopathy - retinal detachment;
• Hypermobility joints;
• Flat face.
![Page 57: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/57.jpg)
Stickler Syndrome
![Page 58: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/58.jpg)
Rett SyndromeIt is combined with
autistic-like symptoms in girls;
Start at 6 m 3 years , to this age - normal
development occurs;
Stereotyped movements - such
as cleaning, applause, etc;
Hands in his mouth;
Respiratory dysfunction -apnea;
Aerofagia, hyperventilation.
Bruxism; dystonia; Scoliosis, kyphosis
![Page 59: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/59.jpg)
Smith-Magenis
syndrome - It is not
genetic but
congenital disease
Frequency - 1: 25000,
Medium intellectual
level;
Delayed speech and speech problems;
Typical vision;
Behavioral problems;
Disturbed sleep from infancy;
Aggression, impulsivity;
anxiety; self-harm.
![Page 60: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/60.jpg)
Smith-Magenis syndrom
Taurodontism;
Wide pulp chamber
downloaded apically;
Defective development of the Hertvig Brun
vagina.
![Page 61: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/61.jpg)
Turner
Syndrome
General symptoms
• Lymph edema of the hands and feet;
• It is not associated with delayed mental development ;
• Hollow nails;
• Convex chest
• It affects the girls;
![Page 62: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/62.jpg)
Turner Syndrome
Oral manifestations
• Macrognatia
• Early eruption of the 1st
molars;
• High palate;
• Malocclusion.
![Page 63: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/63.jpg)
Coffin-Lowry Syndrome
Oral symptoms
• Openbit with a relaxed lower lip;
• Malocclusion -progenia;
• Hypodontia (lower permanent teeth);
• Periodontal disease - more frequently;
• Dental hypoplasia.
![Page 64: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/64.jpg)
Coffin-Lowry Syndrome
General symptoms
• Square forehead
• Protruding ears
• Severe mental disabilities.
![Page 65: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/65.jpg)
Lesch-Nyhan
Syndrome
Self-harm;
Impaired purinemetabolism;
Accumulation of uric acid;
Spasticity;
Delayed mental development;
Arthritis, kidney problems;Decreased
muscles tonus.
![Page 66: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/66.jpg)
Lesch-Nyhan Syndrome
Self Injure lips and nails
![Page 67: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/67.jpg)
Syndromes with
defective ectodermalformation
Obligatory for
the exam
67-84sl.!!
![Page 68: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/68.jpg)
Ectodermal dysplasias
• hair, teeth, nails, et salivary glands;
Hereditary dysplasia of ectodermalstructures –
• they are 10 different species.
According to the affected
genes
![Page 69: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/69.jpg)
Hay-Wells syndrome, Rapp-Hodgkin syndrome and EEC
syndrome - gene TP63.[3]
Hypohidrotic ectodermal dysplasia ED – гени A, EDAR,
EDARADD
Margarita Island ectodermal dysplasia - gene PVRL1
Ectodermal dysplasia with skin fragility - gene PKP1
Clouston's hidrotic ectodermal dysplasia - gene GJB6
Naegeli syndrome/Dermatopathy pigmentosa reticularis -
gene KRT14
Pachyonychia congenita - gene of keratine
Focal dermal hypoplasia - gene PORCN
Ellis–van Creveld syndrome - gene EVC
Palmoplantar ectodermal dysplasia – affect the hands and
the feets.
![Page 70: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/70.jpg)
Ectodermal dysplasia
Transmitted through sex chromosomes;
Characteristics:
• Hypohidrosis - reduced secretion of sweat;
• Hypotrichosis - sparse hair, thin hair;
• Hypodontia;
• Normal psychological development.
![Page 71: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/71.jpg)
Ectodermal dysplasia
![Page 72: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/72.jpg)
hypodontia;
conical teeth
![Page 73: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/73.jpg)
Hypohidrotic Ectodermal Dysplasia
It can be seen during the first year after birth with temperatures of
unknown origin, mainly in the summer
with a teeth eruption or lack of temporary teeth;
Teeth with a conical shape.
![Page 74: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/74.jpg)
Hypohidrotic Ectodermal
Dysplasia
Xerostomia due to hypoplasia of the
salivary glands may be rarely observed;
Reduced to a lack of perspiration
(anhidrosis), due to a severe reduction in
sweat glands;
Dry skin, thin hair, decreased
nasopharyngeal and tear secretion;
Changes in voice due to atrophy of the laryngeal mucosa.
![Page 75: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/75.jpg)
Ectodermal dysplasia
Typical faces
![Page 76: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/76.jpg)
Ectodermal dysplasia
![Page 77: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/77.jpg)
Ectodermal dysplasia
Severe hypodontia;
Retention of temporary canines;
Lack of permanent
teeth.
![Page 78: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/78.jpg)
Ectodermal dysplasia
Teeth anomaly
![Page 79: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/79.jpg)
Behavior of dentists of children with
ectodermal dysplasia
Esthetic restorations of the conical
teeth;
If missing teeth occur -
conventional dentures may be
used, that may be changing
periodically.
![Page 80: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/80.jpg)
Orthodontic treatment have to
accompanied the teeth eruption
Retainers may be used
![Page 81: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/81.jpg)
Ectodermal dysplasia
• specific prevention program orthodontic control
In the beginning:
• crowns, bridges, implants, after completion of the growth of the jaws
In the future:
![Page 82: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/82.jpg)
Ellis-van Crefeld Syndrome – Chondroectodermal
dysplasia (cartilage disorder)
Autosomal recessive inheritance.
Skeleton, mouth, hair and nails, heart,
eyes, nervous system are Impacted ;
Bilateral polydactyly
over numburing fingers, short, thick
limbs, elongated thorax;
Chondrodysplasia (cartilage disorder)
in the field of long bones;
Thin hair, dystrophic nails;
Frequently congenital heart defects
and genital abnormalities occur.
![Page 83: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/83.jpg)
Ellis-van Crefeld syndrome
Oral manifestations:
Fusion of the lips and attached gingiva in the frontal area;
lack of teeth;small conical
teeth;
presence of teeth at birth occur.
![Page 84: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/84.jpg)
Goltz- Gorlin syndrome - focal
dermal hypoplasiaDefects in the
number of fingers;
microphthalmia;
Hypodontia, Enamel
hypoplasia;
Linear skin defects.
![Page 85: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/85.jpg)
Goltz- Gorlin syndrome
![Page 86: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/86.jpg)
Kleydocranial dysplasia
Autosomal dominant
inheritance;
6 chromosome 21 - ST FA1
gene;
Aplasia of the clavicles
The fontanelle
Ossification ;
Convex front;Hypertelorism and maxillary hypoplasia.
![Page 87: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/87.jpg)
Hyperоdontia
![Page 88: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/88.jpg)
Kleydocranial dysplasia Hyperdontia
Conical teeth;
Late teeth eruption;
Dento-alveolar cysts;
Absence or impaired cellular
cement;
Treatment:
Extraction of unresorbed primary
teeth.
Teeth extraction of hyperdontia;
Orthodontic treatment.
![Page 89: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/89.jpg)
“Papillon – Lefevre”
syndromе
3/25/2020 Template copyright 2005 www.brainybetty.com 89
Autosomal recessive genetic disease;
Rarely occur
1: 3,000,000;
Palmar-plantar hyperkeratosis,
Impaired neutrophil chemotaxis;
defective immune function;
Prepubertalen aggressive
periodontitis;
MO: A.actinomicetemcomitans; P.gingivalis, F.
nucleatum. E. corrodens.
Obligatory for
the exam
![Page 90: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/90.jpg)
“Papillon – Lefevre” syndrome
The defective gene is localized to 11q, 14 - 21
chromosomes;
There are genes encoding MMPs, whose disfunction explains hyperkeratosis,
acanthosis and proliferation of cells in the
basal etithelial layer;
Defects in MMPs are responsible for agressive
parodontitis.
Mutation of the gene encoding the enzyme
Cathepsin - inflammatory protease,
breaks down protein and cellular matrix components
in inflammation.
![Page 91: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/91.jpg)
Papillon-Lefevre syndrome
palmoplantarkeratoderma
with periodontitis,
is an autosomal recessive
genetic disorder
caused by a deficiency in cathepsin C
![Page 92: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/92.jpg)
Palmoplantar keratoderma
![Page 93: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/93.jpg)
Melkerson Rosenthal Syndrome
Neurological disease (genetic);
Facial paralysis;
Facial edema; Edema of the lips;
Fisural glossitis
Associated with orofacial
granulomatosis and Crohn's disease.
![Page 94: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/94.jpg)
Melkerson Rosenthal Syndrome
The syndrome is characterized
by:
cheilitisgranulomatosa,
facial paralysisand Lingua
plicata.
![Page 95: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/95.jpg)
Melkerson Rosenthal
Syndrome
Sag palate in the midline.
![Page 96: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/96.jpg)
Sotos syndrome
Cerebral gigantism;
Genetic disorder;
Rapid growth in 2-3 years;
Mental retardation, muscular hypotonia;
Hypertelorism (big between
eyes distance).
![Page 97: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/97.jpg)
Sotos syndrom
4 year old child with Sotossyndrome;
Advanced bone maturation of
early childhood;
Mental retardation;
Unusual craniofacial
form.
![Page 98: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/98.jpg)
SOTOS-syndrome
The same boy of 17
years;
Macrognatia
Strong growth of the
mandible;
High palate;
Premature tooth
eruption.
![Page 99: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/99.jpg)
Sotos
синдром
High palate of the same patient.
![Page 100: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/100.jpg)
Sturge-Weber syndrome
Neuro -ectodermal
disease
angioma;
Angioma is along the trigeminal
nerve;
Accompanied by edema and hypertrophy.
Embriopatia in external and mesodermal development.
![Page 101: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/101.jpg)
The same child
Side if the
angioma has
a slightly
palatal
swelling.
![Page 102: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/102.jpg)
Trichlo - rhino – pharyngeal
syndrome
Autosomal-dominantmgenetic
disorder;
Thin hair;
Bullous nose;
Growth retardation;
Mild hypoplasia;
Outstretched ears and hypodontia.
Langer-Giedion syndrome
![Page 103: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/103.jpg)
The same
child
Typical signs of tricho -rhino-pharyngeal syndrome.
![Page 104: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/104.jpg)
The same child
A child of five years;
Hypodontia;
Missing two upper second
temporary incisors .
![Page 105: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/105.jpg)
Congenital defects in
connective tissue
Osteogenesis imperfecta
Marfan’sSyndrome
Ehlers –Danlos
syndromeothers
Obligatory for
the exam
107-121sl.!!
![Page 106: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/106.jpg)
Osteogenesis imperfecta
A genetic disease that is characterized by easy
bone fragility (often broken or cracked for no
apparent reason);
Osteogenesis imperfectais caused by a genetic defect that affects the production of collagen
(the most common type 1) in the body;
In the human body it is produced in an amount
of less than normal, or in a worse quality.
![Page 107: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/107.jpg)
Osteogenesis imperfecta -
There are four main types of osteogenesis imperfecta
type IV - mild,
type II - very severe,
type III - severe and
type IV - indefinite.
C hypodontia
There are four main types of osteogenesis
imperfecta
type I - mild, type II - severe,type III – very
severetype IV -
indefinite.
![Page 108: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/108.jpg)
Osteogenesis
imperfecta
Disease associated with a defect in collagen-
type one;
Bring to thin and brittle bones worst
injuries;
Progressive hearing loss
Dentinogenesisimperfecta occur
![Page 109: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/109.jpg)
Dentinogenesis in children with
osteogenesis imperfecta
Teeth with amber transparency;
Quickly abrasio occur;
Pulp obliteration;
Scalloped enamel-dentin border;
Slim mantel dentin;
Irregular, atubularen dentin;
Large interglobular dentin.
![Page 110: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/110.jpg)
Dentinogenesa imperfecta
Temporary dentition is
affected
The permanent teeth is often unaffected.
![Page 111: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/111.jpg)
Osteogenesis imperfecta may be
combined with “Odontodysplasia”
2 year old children;
Teeth shadows", typical defect in this disease.
![Page 112: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/112.jpg)
Osteopetrosis-
disease of Albers-Schonberg
Genetic bone disease
The balance between bone resorption and apposition is diturbed;
Autosomal dominant and recessive inheritance;
Delayed skeletal development, ossification of the joints occur;
Reduced bone marrow spaces:
Mielopoetic pancytopenia;
Anemia;
Hemorrhagic diathese;
Risk of infection (<Leu);
Early mortality.
Hyper cementosis and loss of periodontal fibres
![Page 113: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/113.jpg)
CHERUBISM - like fibrous dysplasia
SH3BP2 gene mutation of the fourth chromosome;
Bilaterally asymmetric expansion of the upper jaw and
directing the regard up at the sky.
Clinically established about 5 years.
The facies similar to the "angelic face" (painted in the
Middle Ages);
The disease is self-limiting, it can regress.
Lack of dental germs or displaced teeth
multinuclear
giant cells in
fibrous stroma
![Page 114: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/114.jpg)
FLORID OSSEOUS DYSPLASIA (FOD) -
"Chronic diffuse sclerotic osteomyelitis"
Multiple sclerosis cementiod
endostosis of bone tissue in the jaw,
also called:
"Giant cementomas„
Around the roots of cement-like
tissue are formed.
![Page 115: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/115.jpg)
FIBROUS DYSPLASIA
- may be associated with
dentinogenesis imperfecta
The latest genetic discovery - a mutation of a gene encoding a
G-protein that involves in cell signalisation;
Fibroblast proliferation substitute bone
marrow;
osteoblast cells metaplasia occur;
Tumor-like growths is observed.
![Page 116: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/116.jpg)
“Fibrose dentinal
dysplasia”Autosomal dominant inherance;
No tendency to abrasion;
Unchanged form and color of dentin;
Obliteration of the pulp chambers;
Fibrous pulp dystrophy;
Irregular dentin;large bundles of
collagen, calcifications.
![Page 117: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/117.jpg)
Fibrose dentinal
dysplasia
Visible obliteration of dental pulp;
It is not complete root
formation;
![Page 118: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/118.jpg)
Hurler syndrome or
mucopolysaharoidosis
Deficiency of an enzyme that breaks down mucopolysaccharidesin cell lysosomes;
Coarse facial features;
Saddle nose;
macroglossia;
Mental retardation;
Heart problems.
![Page 119: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/119.jpg)
Hurler Syndrome
Mucopolysaccharidosis I-H
Autosomal recessiveinherence;
Oral symptoms:
• Tremas, macroglossia, conical teeth;
• Open bite; ectopic molars;
• Retarded teeth eruption;
• Tooth cysts;
General symptoms
• Apnea;
• Macrocephaly;
• Hepatosplenomegaly;
• Deformity of the chest and spine.
![Page 120: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/120.jpg)
Herler syndromе
![Page 121: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/121.jpg)
Maroteaux-Lamy syndrome -
accumulation of acid
mucopolysaccharides in the tissues
![Page 122: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/122.jpg)
Hypophosphatasia - mineralization defects
Hereditary (autosomal - recessive) enzyme deficiency in serum and tissue alkaline phosphatase. Rare disease than adults have neonatal and child (2-3g.) form.
![Page 123: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/123.jpg)
Oral manifestation in Hypophosphatasia
Periodontal lysis (localized aggressive
prepubertal periodontitis);
Loss of temporary, and permanent teeth;
X -ray observed alveolar destruction;
Large pulp chambers and wide roots;
skeletal abnormalities, eye defects, increased intracranial pressure,
impaired development.
![Page 124: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/124.jpg)
Зъбна хистология при
хипофосфатазия
Do not differ from the peritubular
and inter tubular dentin;
Hypoplasticcanines;
Thin dentin;
lack of cement.
![Page 125: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/125.jpg)
Gardner syndrome – of the group
of familial colon - rectal polyposis
syndromes
Autosomal dominant genetic transmitted diseases;
Oral manifestations:
• multiple osteomas, exostoses;
• fibroid tumors of the oral mucosa;
Skin and bone abnormalities:
• epidermoid cysts, fibroids and pigmentated, osteomas;
• Multiple polypus of the colon and rectum with a tendency to malignancy.
![Page 126: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/126.jpg)
Gardner синдром - остеоми
![Page 127: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/127.jpg)
Syndrom Bloch –Sulzberger
(Incontinentia Pegmenti)
Dominant transmission, X-
chromosomal genetic disorder.
Neurological and skeletal
problems;
pigmentations;Dental
anomalies:
90% oligodontia, retarded teeth
eruption,
enamel dysplasia,
conical teeth;
Affecting both temporary and
permanent teeth.
![Page 128: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/128.jpg)
Ehlers -Danlos
syndrome 3/25/2020 128
Autosomal dominant / recessive genetic
disorder,
affecting collagen joints, skin, mucous
membranes;
Fragile skin and mucosa, bleeding
lesions;
The VIII type is associated with
aggressive periodontitis with
early onset.
![Page 129: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/129.jpg)
Marfan’ s syndrome
Connective tissue genetic disorder;
Typical hands;
Hypermotility of joints;
Cardiac abnormalities;
Oral symptoms:
• Caries
• Enamel and dentin dysplasia
• root anomalies
![Page 130: Oral pathology in children with dysmorphic features Syndromes · Malformation is a structural defect in the body due to abnormal embryonic ... •Malocclusion. Coffin-Lowry Syndrome](https://reader034.vdocuments.site/reader034/viewer/2022050203/5f56b5b3eca5480cbb19796f/html5/thumbnails/130.jpg)
The end