Mckusick-weiblaecher syndrome 7

General: Cataract; leg absence deformity; rare; two cases reported in Amish females whose parents share same ancestors; autosomal recessive.

Ocular: Congenital cataract; partial paralysis of oculomotor III nerve.

Clinical: Absence or deformity of leg; progressive scoliosis; partial duplication of foot; imperforate anus.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.

McKusick VA, Weiblaecher RG. Recessive inheritance of congenital malformation syndrome. JAMA 1968; 204: 111-l16.