congenital anatomic anomalies

Upload: mahparahmumtaz

Post on 04-Jun-2018

232 views

Category:

Documents


0 download

TRANSCRIPT

  • 8/13/2019 Congenital Anatomic Anomalies

    1/12

    CONGENITAL

    ANATOM ICAL ANOMALIES

    OR

    BIRTH DEFECTS.

    PROF. DR. GHULAM SARWAR GARRANI.

    HEAD OF ANATOMY DEPARTMENT

    JINNAH MEDICAL AND DENTAL COLLEGE.

  • 8/13/2019 Congenital Anatomic Anomalies

    2/12

  • 8/13/2019 Congenital Anatomic Anomalies

    3/12

    BIRTH DEFECTS

    Congenital Malformation; is the term used to describe the

    developmental disorder present at birth. Birth defects are leadingcause of Infant Mortality , and may be Structural, Functional,Metabolic, Behavioral or Hereditary.

    The causes of congenital anatomic anomalies are often divided

    into:

    (1)Genetic factors, such as Chromosome Anomalies

    (2) Environmenal factors, such as Drugs, Viruses .

    However common congenital anomalies are caused bymultifactorial Inheritance(Genetic and Environmental factorsacting together in a complex manner)

    50% To 60% birth defects cause is Unknown.

  • 8/13/2019 Congenital Anatomic Anomalies

    4/12

    Birth defect, congenital malformation and congenital

    anomalies are synominious terms use to describe

    structural, behavioral, functional and metabolic

    disorderspresent at birth.

    The term use to describe the study of these disorders is

    TERATOLOGY( teratoes : monsters).

    The major structural anomalies occuring in 2 to 3% of

    the new born infants and in addition to 2 to 3% are

    recognized in children by the age of 5 years (for a

    total of 4 to 6%)

  • 8/13/2019 Congenital Anatomic Anomalies

    5/12

    Birth defects are the leading cause of infant

    mortality, accounting for approximately 21%

    of infants death and major contributor to thedisabilities.

    In 40 to 60% of persons with birth defect thecause is unknown.

    Genetic factors such as chromosomal

    abnormalities, mutant genes and

    environmental factors.

  • 8/13/2019 Congenital Anatomic Anomalies

    6/12

    There are four clinically significant types of congenitalabnormalities:

    (1)Malformation

    (2) Disruption(3) Deformation

    (4) Dysplasia

    (1) Malformation

    A developmental defect of organ or part of an organ, or a largerregion of the body that results from an intrinsically abnormal

    developmental process. Intrinsic implies that the developmentalpotential of the primordium is abnormal from the beginning,such as chromosomal abnormality of a Gameteat fertilization.Most malformation are considered to be a defect ofdevelopmental field that responds as a coordinated unit to

    embryonic interaction and results in a Complex or MultipleMalformations.

  • 8/13/2019 Congenital Anatomic Anomalies

    7/12

    (2) Disruption

    A Morphologic defect of a part of an organ, an organ or a larger region

    of the body that results from the extrinsic breakdown of, or an

    interference with an originally normal developmental process. ThusMorphologic alterations after exposure to Teratogens, agents such as

    Drugs and Viruses. should be considered as disruption. A Disruption

    cannot be inherited but inherited factors can predispose to and influence

    the development of a Disruption

    (3) Deformation

    An Abnormal form, shape or Position of a part of a body that results

    from Mechanical forces. Intrauterine compression that results fromOligohydramnios which is insufficient amount of Amniotic fluid. It

    produces an Equinovarus foot or Club Foot. Some C.N.S defects such as

    Meningomyelocele, A severe type of Spina bifida produce Intrinsic

    functional Disturbances that also cause Fetal Deformation.

  • 8/13/2019 Congenital Anatomic Anomalies

    8/12

    (4) Dysplasia

    An abnormal organization of cells into (Tissues)and it morphologicresults. Dysplasia is the process and the Consequence of

    Dyshistogenesis (Abnormal Tissue Formation). All abnormalities

    relating to Histogenesis are therefore classified as Dysplasia

  • 8/13/2019 Congenital Anatomic Anomalies

    9/12

    TERATOGENS ASSOCIATED WITH HUMAN MALFORMATIONS

    TERATOGEN CONGENITAL MALFORMATION.

    INFECTIOUSAGENT DEFECTS.

    Rubella Cataract, glucoma, heart defects deafness,tooth abnormalities

    Cytomegalovirus Microcephaly, blindness, mental retardation

    Herpes simplexvirus

    Microopthalmia microcephaly

    HIV Microcephaly, growth retardation.

    Toxoplasmosis Hydrocephalous, cerebral calcification,micropthalmia.

    syphilis Mental retardation, deafness.

  • 8/13/2019 Congenital Anatomic Anomalies

    10/12

    Valproic acid Neural tube defect, heart defects,limb anomalies.

    Lithium Heart malformation.

    Warfarin Chondrodysplasia, microcephalyCocain Growth retardation microcephaly

    Alcohol Hypoplasia, heart defects

    Lead Growth retardation, neurogicaldisorders.

    Mercury Neurological symptoms.

    CHEMICAL AGENTS:

  • 8/13/2019 Congenital Anatomic Anomalies

    11/12

    PHYSICAL AGENTS:

    X-rays Microcephaly, spina bifida cleftpalate limb defects

    Hyperthermia Anencephaly, spina bifida mentalretardation.

    HARMONES:

    Androgenicagents

    Masculization of female genitalia,clitorial hypertrophy.

    Maternal diabetes Heart and neural tube defects

    Maternal obesity Heart defects, omphalocele.

  • 8/13/2019 Congenital Anatomic Anomalies

    12/12

    THANK YOU