Brachymesomelia-Renal Syndrome

Langer et al. (1983) reported a single case of a Japanese infant who died in the newborn period of cardiac and renal failure. X-rays showed bizarre deformities of the forearm and lower leg. The corneas were clouded and the kidneys enlarged. Renal biopsies showed glomerulocystic kidneys. A noncyanotic cardiac malformation was thought to be present. Autopsy was refused. The parents were apparently unrelated--mother aged 31 and father aged 36.