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Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature.
Am J Med Genet. 1992 Sep 15; 44(2):129-35.AJ

Abstract

Simpson-Golabi-Behmel Syndrome (SGBS), an X-linked encephalo-tropho-schisis syndrome described in fewer than a dozen families, is characterized by pre- and postnatal overgrowth, "coarse" face, minor facial anomalies and, in more severe cases, multiple congenital anomalies and mental retardation. We report on 2 brothers with overgrowth, macrocephaly, polydactyly, supernumerary nipples, and characteristic facial appearance. In addition, the propositus also had pulmonic stenosis and a cleft palate. The findings present in our patients are compared to those in the original patients and to those in patients described more recently. Despite the fact that our patients have most of the minor and several of the more severe malformations, they are not mentally retarded.

Authors+Show Affiliations

Department of Human Genetics, Medical College of Virginia/Virginia Commonwealth University, Richmond 23298-0033.No affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

1456279

Citation

Garganta, C L., and J N. Bodurtha. "Report of Another Family With Simpson-Golabi-Behmel Syndrome and a Review of the Literature." American Journal of Medical Genetics, vol. 44, no. 2, 1992, pp. 129-35.
Garganta CL, Bodurtha JN. Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature. Am J Med Genet. 1992;44(2):129-35.
Garganta, C. L., & Bodurtha, J. N. (1992). Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature. American Journal of Medical Genetics, 44(2), 129-35.
Garganta CL, Bodurtha JN. Report of Another Family With Simpson-Golabi-Behmel Syndrome and a Review of the Literature. Am J Med Genet. 1992 Sep 15;44(2):129-35. PubMed PMID: 1456279.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature. AU - Garganta,C L, AU - Bodurtha,J N, PY - 1992/9/15/pubmed PY - 1992/9/15/medline PY - 1992/9/15/entrez SP - 129 EP - 35 JF - American journal of medical genetics JO - Am J Med Genet VL - 44 IS - 2 N2 - Simpson-Golabi-Behmel Syndrome (SGBS), an X-linked encephalo-tropho-schisis syndrome described in fewer than a dozen families, is characterized by pre- and postnatal overgrowth, "coarse" face, minor facial anomalies and, in more severe cases, multiple congenital anomalies and mental retardation. We report on 2 brothers with overgrowth, macrocephaly, polydactyly, supernumerary nipples, and characteristic facial appearance. In addition, the propositus also had pulmonic stenosis and a cleft palate. The findings present in our patients are compared to those in the original patients and to those in patients described more recently. Despite the fact that our patients have most of the minor and several of the more severe malformations, they are not mentally retarded. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1456279/Report_of_another_family_with_Simpson_Golabi_Behmel_syndrome_and_a_review_of_the_literature_ DB - PRIME DP - Unbound Medicine ER -