Figure 2.

Phenotypic features of de la Chapelle dysplasia. (A) Photograph of subject VIII1 (fig 1), a male baby born at term with weight 2750 g and length 40 cm, who died shortly after birth. There is severe micromelia, bilateral clubfoot, short fingers and toes, short trunk with protuberant abdomen, and micrognathia. (B) Radiograph of subject VIII1 (fig 1): long bones are shortened and bowed with metaphyseal flaring, with conserved major axis; the humerus is V shaped, and there is pronounced hypoplasia of the ulnae and fibulae which have a triangular shape; the spine is poorly ossified with progressive narrowing of the interpediculate distance in the lower lumbosacral region; the ilia are hypoplastic. (C) Radiograph of subject VIII2 (fig 1), a female baby, born near to term with weight 2450 g and length 37 cm: the radiographic findings are similar to those of subject VIII1, with generalised micromelia, very hypoplastic ulna and apparent absence of the fibula, small ilia and underossified spine. Reproduced from Chapelle et al,¹ with permission of the publisher.