Figure 3.

Limb abnormalities in II.1 from family 5. Photographs at age 1 mo of left hand (A), showing extremely small thumb; and right foot (B ), showing absence of hallux. Radiographs at age 5 years of both hands (C), showing extremely short first metacarpals, small pointed first distal phalanges, marked hypoplasia of all middle phalanges, especially the second and fifth, pseudoepiphyses of the third and fourth middle phalanges and the first and second metacarpals, and delayed ossification of the carpal centers; and both feet (D), showing absence of first digits apart from rudimentary bases of the first metatarsals, hypoplasia/absence of all middle phalanges, lack of epiphyses associated with the middle and distal phalanges, and abnormal tarsals with absent or fused cuneiforms.