Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome.
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.
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA. cbg@iupui.edu
Christopher B
CB
Griffith
Richard C
RC
Probert
Gail H
GH
Vance
D000015:Abnormalities, Multiple / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005837:Genitalia, Male / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D035781:Siblings; D013577:Syndrome