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| REPORT OF ANOTHER FAMILY WITH SIMPSON-GOLABI-BEHMEL SYNDROME AND A REVIEW OF THE LITERATURE |
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| Author(s): GARGANTA CL, BODURTHA JN |
| Source: AMERICAN JOURNAL OF MEDICAL GENETICS Volume: 44 Issue: 2 Pages: 129-135 Published: SEP 15 1992 |
| Times Cited: 48 References: 23 |
| 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. |
| Document Type: Article |
| Language: English |
Addresses:
1. VIRGINIA COMMONWEALTH UNIV, MED COLL VIRGINIA, DEPT HUMAN GENET, BOX 33, MCV STN, RICHMOND, VA 23298 USA |
| Publisher: WILEY-LISS, DIV JOHN WILEY & SONS INC 605 THIRD AVE, NEW YORK, NY 10158-0012 |
| Subject Category: Genetics & Heredity |
| IDS Number: JM993 |
| ISSN: 0148-7299 |
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