A new hypospadias-mental retardation syndrome in three brothers

J. Goldblatt, C. Wallis and D. Viljoen
Department of Human Genetics and Medicine, University of Cape Town Medical School, Republic of South Africa.

Three brothers had a syndrome of hypospadias and mental retardation in association with microcephaly, craniofacial dysmorphism, joint laxity, and beaked nails. No other family members were affected, and this previously undelineated condition appears to be inherited in either an autosomal recessive or X-linked recessive mode.