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

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

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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

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Simpson-Golabi-Behmel syndrome

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  • Genetics(clinical)

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Simpson-Golabi-Behmel syndrome : An X-linked encephalo-tropho-schisis syndrome. / Neri, G.; Marini, R.; Cappa, M.; Borrelli, P.; Opitz, J. M.

In: American Journal of Medical Genetics, Vol. 30, No. 1-2, 1988, p. 287-299.

Research output: Contribution to journalArticle

Neri, G, Marini, R, Cappa, M, Borrelli, P & Opitz, JM 1988, 'Simpson-Golabi-Behmel syndrome: An X-linked encephalo-tropho-schisis syndrome', American Journal of Medical Genetics, vol. 30, no. 1-2, pp. 287-299.
Neri, G. ; Marini, R. ; Cappa, M. ; Borrelli, P. ; Opitz, J. M. / Simpson-Golabi-Behmel syndrome : An X-linked encephalo-tropho-schisis syndrome. In: American Journal of Medical Genetics. 1988 ; Vol. 30, No. 1-2. pp. 287-299.
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