Simpson‐Golabi‐Behmel syndrome: An X‐linked encephalo‐trophoschisis syndrome

Abstract

Abstract We report on another family with the so‐called “gigantism‐dysplasia syndrome”, an X‐linked condition characterized by pre‐and postnatal overgrowth, characteristic face with apparent coarseness, dysplastic changes in several tissues, and mild intellectual impairment. This condition has been called the Golabi‐Rosen syndrome; however, we agree that is the same entity as that described, in a milder form, by Simpson et al in 1975 and by Behmel et al in 1984. Therefore, we suggest that this entity be designated the Simpson‐Golabi‐Behmel syndrome. The manifestations in affected individuals suggest that this condition represents an X‐linked encephalo‐tropho‐schisis syndrome.