bone dysplasia. definition of dysplasia abnormal development types proportionate dysplasia /...
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Bone Dysplasia
Definition of Dysplasia • Abnormal development • Types• Proportionate dysplasia /
dwarfism • Disproportionate
• Short trunk eg Kniest syndrome• Short limb
• Proximal – rhizomelic• Middle – mesomelic• Distal – acromelic
Proportionate eg mucopolysaccharidoses
Definition of Dysplasia • Abnormal development • Types• Proportionate dysplasia /
dwarfism • Disproportionate
• Short trunk eg Kniest syndrome• Short limb
• Proximal – rhizomelic• Middle – mesomelic• Distal – acromelic
Disproportionate
Definition of Dysplasia • Abnormal development • Types• Proportionate dysplasia /
dwarfism • Disproportionate
• Short trunk eg Kniest syndrome• Short limb
• Proximal – rhizomelic• Middle – mesomelic• Distal – acromelic
Disproportionate
Definition of Dysplasia • Abnormal development • Types• Proportionate dysplasia /
dwarfism • Disproportionate
• Short trunk eg Kniest syndrome• Short limb
• Proximal – rhizomelic• Middle – mesomelic• Distal – acromelic
Disproportionate
Definition of Dysplasia • Abnormal development • Types• Proportionate dysplasia /
dwarfism • Disproportionate
• Short trunk eg Kniest syndrome• Short limb
• Proximal – rhizomelic• Middle – mesomelic• Distal – acromelic
Disproportionate
Classification based on growth plate
Hyperplasia • Epiphysis • Physis • Hyperchondroplasia • Enchondromatosis
• Metaphysis • Exostosis
• Diaphyseal• Progressive diaphyseal dysplasia
Hypoplasia • Epiphysis
• Spondyloepiphyseal dysplasia• Multiple epiphyseal dysplasia
• Physis • Achondroplasia
• Metaphysis • Hypophosphatasia• Osteopetrosis
• Diaphyseal• OI and osteoporosis
Conditions
Achondroplasia• Disproportionate dwarfism (most
common type)– short limb • AD FGFR 3 mutation
• Pseudoachondroplasia normal facies AD chromosome 19 defect on COMP
• Affects endochondral > appositonal growth • Physeal dysplasia
Clinically• Head
• Button noses and frontal bossing
• Limbs • Rhizomelic – N sitting height • Trident hands• Radial head subluxation
• Spine• Lumber stenosis • Thoracolumber stenosis
Conditions
Spondyloepeiphyseal dysplasia • Involves the spine caused by • Defect in Type 2 collagen • Congenital type = AD• Tarda type = X-linked• Scoliosis – sharply curved
Mulitiple epiphyseal dysplasia (MED) • Mutation in COMP • Delayed ossification / irregular
epiphyses• Clinically limb abnormalities• Short MC and MT• Valgus knees • Irregular proximal femora
Conditions
Kniest Syndrome• AD defect in collage type II• Short trunk disproportionate
dwarfism• Clinically
• Orthopaedic• Contractures/stiffness• Scoliosis and kyphosis• Dumbbell femora
• Extra-skeletal• Otitis media and hearing loss
Dysplasia Epiphysealis Hemimeilica (trevors disease)• Epiphyseal osteochondromata• Calcifications also seen within
joint • Usually only affects 1 joint
Conditions
Metaphyseal Chondrodysplasia • Affects proliferative and
hypertrophic zones of physis• Types
• Jansen – AD defect to parathyroid related hormone • Wide eyes and wide based stance
(monkey)• Schmid – AD type X collagen
• DD rickets with varus knees (N bloods) • McKusick – AR cartilage hair dysplasia
• Fibular overgrowth and C1/2 instability
Mucopolysaccharidosis • Proportionate dwarfism with presence
of complex sugars in the urine• Types
• Morquio – AR keratin sulphate in urine• C1/2 instability, cloudy cornea, waddling
gait, valgus knees• Hurler – AR heparan/dermatan sulphate
• Most severe form with mental retardation• Hunter - heparan/dermatan sulphate • Sanilippo - heparin sulphate
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