Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form

Summary The author describes four cases of chondrodysplasia punctata with an hypoplasia of the distal phalange of the fingers. In these cases, growth disturbance is moderate without asymmetry of the limbs, and the facial dysmorphism is similar to that found in Binder's maxillo-facial dysostosis. The phalangeal anomaly is very important for the diagnosis of chondrodysplasia punctata at an age when epiphyseal stippling is no longer present. The relationship of this form of chondro-dysplasia with cases in which there is a deletion of the terminal short arm of the X chromosome is discussed. A possible hypothesis is that this form, which is always observed in males, is secondary to an isolated mutation of the Xp localized gene.