| Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome. | |
| | |
MedLine Citation:
|
PMID: 19842194 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
Christopher B Griffith; Richard C Probert; Gail H Vance |
Related Documents
:
|
16685624 - Rokitansky-kustner-hauser syndrome - a case report. 10420194 - Eem syndrome: report of a family and results of a ten-year follow-up. 1155074 - Case report: maldescent of the thymus in a hypoparathyroid infant with pharyngeal pouch... 2036354 - Ablepharon macrostomia syndrome. 9475094 - Do intronic mutations affecting splicing of wt1 exon 9 cause frasier syndrome? 2947784 - Correlation of absent inner dynein arms and mucociliary clearance in a patient with kar... |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: American journal of medical genetics. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 Nov |
Date Detail:
|
Created Date: 2009-11-05 Completed Date: 2010-01-06 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
|
Languages: eng Pagination: 2484-8 Citation Subset: IM |
Copyright Information:
|
Copyright 2009 Wiley-Liss, Inc. |
Affiliation:
|
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA. cbg@iupui.edu |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple
/
pathology* Child Child, Preschool Genitalia, Male / abnormalities* Humans Infant Infant, Newborn Male Siblings* Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Brainstem disconnection associated with nodular heterotopia and proatlantal arteries.
Next Document: Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy.