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Genital anomalies in three male siblings with Simpson–Golabi–Behmel syndrome
Author(s) -
Griffith Christopher B.,
Probert Richard C.,
Vance Gail H.
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33047
Subject(s) - supernumerary , sex organ , medicine , penis , chin , pediatrics , anatomy , biology , genetics
Abstract Simpson–Golabi–Behmel syndrome is an X‐linked recessive overgrowth disorder characterized by prenatal onset of overgrowth, characteristic facies, and frequently mild to severe mental retardation. In addition, a number of other characteristics including supernumerary nipples, a grooved tongue or chin, chest wall malformations, and mild genital anomalies are frequently seen as well. Here we present three brothers with Simpson–Golabi–Behmel syndrome, all of which had cryptorchidism with one also having chordee of the penis, hypospadius, and penoscrotal transposition. While severe genital anomalies have been reported rarely in patients with Simpson–Golabi–Behmel syndrome, no individuals with such anomalies prior to this report had survived beyond the neonatal period. © 2009 Wiley‐Liss, Inc.