Simpson-Golabi-Behmel syndrome: An X-linked encephalo-tropho-schisis syndrome

G. Neri, R. Marini, M. Cappa, P. Borrelli, J. M. Opitz

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)287-299
Number of pages13
JournalAmerican Journal of Medical Genetics
Volume30
Issue number1-2
Publication statusPublished - 1988

ASJC Scopus subject areas

  • Genetics(clinical)

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