The FG syndrome: 7 new cases

Abstract
The X-linked FG syndrome is characterized by mental retardation, congenital hypotonia and constipation (which may be severe), structural anal anomalies and relative macrocephaly in some, and an unusual and characteristic facial appearance. Seven males from 4 families are described. One had anal stenosis. Two of the mothers and 1 sister show probable carrier manifestations. The features of the FG syndrome are individually non-specific. The characteristic combinations of features is needed to avoid overdiagnosis.