. Kniest Dysplasia. PORTNotes. In: OrthopaedicsOne - The Orthopaedic Knowledge Network. Created Feb 16, 2009 17:06. Last modified Feb 16, 2009 17:06 ver.2. Retrieved
 | The license could not be verified: License Certificate has expired! |
INHERITANCE: AD
FREQUENCY: rare
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
