Kniest dysplasia

An autosomal-dominant collagen disorder that causes dwarfism. Findings include a short trunk, prominent and stiff joints, flattened face, eye abnormalities, deafness, inguinal hernias, hip dislocation, cleft palate, and talipes-equinovarus. Patients develop severe dorsal kyphosis or kyphoscoliosis and lumbar lordosis.


 


Posted

in

by

Tags: