Main clinical features
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short-limbed dwarfism, lethal, with vertebral anomalies (bodies hypoplastic with relatively well-preserved posterior arches), superiorly oriented orbits with Mephistophilian appearance
radiographic features were short, broad long-bones with dumbbell-like appearance, flat and hypoplastic vertebral bodies, short and wide fibula, and precocious ossification of the tarsus, snail-like pelvis
chondroosseous histology characterized by hypervascularity, increased cellular density, and normal-sized chondrocytes with a centrally located round nucleus and absence of lacunar space |