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Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome.
Am J Med Genet. 1988 May-Jun; 30(1-2):287-99.AJ

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+Show Affiliations

Neri G
Istituto di Biologia e Genetica, Università G. D'Annunzio, Italy.
Marini R
No affiliation info available
Cappa M
No affiliation info available
Borrelli P
No affiliation info available
Opitz JM
No affiliation info available

MeSH

Abnormalities, MultipleAdultChildFaceFemaleGenetic LinkageGigantismHumansIntellectual DisabilityMaleMuscle HypotoniaPedigreeX Chromosome

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

3177455

Citation

Neri, G, et al. "Simpson-Golabi-Behmel Syndrome: an X-linked Encephalo-tropho-schisis Syndrome." American Journal of Medical Genetics, vol. 30, no. 1-2, 1988, pp. 287-99.
Neri G, Marini R, Cappa M, et al. Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. Am J Med Genet. 1988;30(1-2):287-99.
Neri, G., Marini, R., Cappa, M., Borrelli, P., & Opitz, J. M. (1988). Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. American Journal of Medical Genetics, 30(1-2), 287-99.
Neri G, et al. Simpson-Golabi-Behmel Syndrome: an X-linked Encephalo-tropho-schisis Syndrome. Am J Med Genet. 1988 May-Jun;30(1-2):287-99. PubMed PMID: 3177455.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. AU - Neri,G, AU - Marini,R, AU - Cappa,M, AU - Borrelli,P, AU - Opitz,J M, PY - 1988/5/1/pubmed PY - 1988/5/1/medline PY - 1988/5/1/entrez SP - 287 EP - 99 JF - American journal of medical genetics JO - Am J Med Genet VL - 30 IS - 1-2 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3177455/Simpson_Golabi_Behmel_syndrome:_an_X_linked_encephalo_tropho_schisis_syndrome_ DB - PRIME DP - Unbound Medicine ER -