Radial defects and testicular dysfunction: a new syndrome?

We describe two unrelated male patients with radial ray defects and increas ed serum concentrations of follicle stimulating hormone due to testicular d ysfunction. This combination of features has not previously been described. Several mouse genes are known to be involved in preaxial limb development and male fertility, suggesting that the combination of radial ray defects a nd testicular dysfunction may represent a new syndrome in humans. Abnormali ties of spermatogenesis or sperm function may constitute an under-recognize d feature of human multiple congenital malformation syndromes. Clin Dysmorp hol 8: 203-205 (C) 1999 Lippincott Williams & Wilkins.