FG syndrome. Report of a family and siblings with imperforate anus.

Abstract

A newborn baby was admitted with imperforate anus (anocutaneous fistula). He had macrocephaly, broad forehead, upsweep of the hair, broad thumbs and toes, and absence of corpus callosum. Family history revealed that his brother and uncle had mental retardation with anomalies of head, face, hand and foot. Also the brother had imperforate anus (covered anal stenosis), and the mother had carrier manifestation (upsweep of the hair). These patients are thought to be affected with FG sydrome, and this is the first report of a family with FG syndrome in Japan.