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Kniest Dysplasia

CLINICAL: round flat face, depressed nasal bridge, prominant eyes, cleft palate, clubfoot,inguinal herniae, myopia and hearing loss, retinal detachment, normal IQ
RADIOGRAPHIC: flattening and anterior wedging of vertebral bodies, expanded metaphyses, irregular epiphyses, coxa vara with late ossification of capital femoral epiphyses
PATHOLOGY: ? premature cleavage of C-propeptide disrupting fibrillogenesis; soft cartilage with vacuolar degeneration of chondrocytes and matrix
PROGNOSIS: incapacitation may result from progressive painful, contracted joints
TREATMENT: prevent joint contractures and muscle atrophy; hearing and eye care


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