title: Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. 1988.
abstract: The following paper by Professor GiovanniNeri and colleagues was originally published in 1988, American Journal of Medical Genetics 30:287–299. This paper represented a seminal work at the time of publication as it not only reported a new family with a disorder that had been called the “gigantism-dysplasia syndrome”, but also suggested naming the condition the Simpson-Golabi-Behmel syndrome. This eponym has clearly stood “the test of time”, and that designation is now widely accepted. This paper is graciously republished by Wiley-Blackwell in the Special Festschrift issue honoring Professor Neri. 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", Chieti.
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: D001145:Arrhythmias, Cardiac / Q000175:diagnosis / Q000266:history*; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000266:history*; D005877:Gigantism / Q000175:diagnosis / Q000266:history*; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000266:history*; D049674:History, 21st Century; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000266:history*; D008297:Male
keywords: Golabi-Rosen syndrome; Simpson-Golabi-Behmel syndrome; X-linked inheritance; XLMR/MCA syndrome; encephalo-tropho-schisis syndrome; gigantism