Figure 2.

Limb abnormalities in II.2 from family 1 at age 8 years. Photographs of left hand (A), showing short, proximally placed thumb, ulnar deviation of the second finger, and clinodactyly of the fifth finger; and left foot (B), showing short, medially deviated hallux. Radiographs of both hands (C), showing short first metacarpals, small pointed first distal phalanges, hypoplastic second and fifth middle phalanges, proximal pseudoepiphyses of the second metacarpals and delayed ossification of the carpal centers; and both feet (D), showing short first metatarsals, small triangular first proximal and distal phalanges, absent ossification of the third to fifth middle phalanges, and hypoplasia/absence of the distal phalanges.