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A case of the Naumoff type (type 3) of short rib-polydactyly syndrome is reported.
The skeletal changes included bulging forehead, flat occiput, short cranial base, extremely short
horizontal ribs, abnormal vertebrae, and post-axial polydactyly.
Microscopically, cartilage showed markedly stunted and disorganized endochondrial ossification.
Extraskeletal manifestation were cleft palate, pulmonary hypoplasia, hydropelvis and hydroureter
with narrowing of ureterovesical junction.
Differentiation from other type of short rib-polydactyly syndrome... |
