title: Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome.
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.
authors.affiliation: Istituto di Biologia e Genetica, Università G. D'Annunzio, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Neri
authors.forename: R
authors.initials: R
authors.lastname: Marini
authors.forename: M
authors.initials: M
authors.lastname: Cappa
authors.forename: P
authors.initials: P
authors.lastname: Borrelli
authors.forename: J M
authors.initials: JM
authors.lastname: Opitz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002648:Child; D005145:Face / Q000002:abnormalities; D005260:Female; D008040:Genetic Linkage; D005877:Gigantism / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D010375:Pedigree; D014960:X Chromosome