| Early-onset sensorineural hearing loss is a prominent feature of H syndrome. | |
| | |
MedLine Citation:
|
PMID: 20399510 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
This case report describes two patients with H syndrome, a multisystemic autosomal recessive disorder, caused by mutations in the SLC29A3 gene. It is characterized by cutaneous hyperpigmentation, camptodactyly or flexion contractures and other features, among them hearing loss. The two patients had hearing loss as their presenting symptom, and had mutations in SLC29A3, one of them a novel mutation. The aim of this paper is to increase awareness to this recently described disorder, and to emphasize that H syndrome should be included in the differential diagnosis of congenital or acquired syndromic hearing loss in children. |
| | |
Authors:
|
Yuval Ramot; Koji Sayama; Ruth Sheffer; Victoria Doviner; Nurith Hiller; Michal Kaufmann-Yehezkely; Abraham Zlotogorski |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: International journal of pediatric otorhinolaryngology Volume: 74 ISSN: 1872-8464 ISO Abbreviation: Int. J. Pediatr. Otorhinolaryngol. Publication Date: 2010 Jul |
Date Detail:
|
Created Date: 2010-08-05 Completed Date: 2010-12-08 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 8003603 Medline TA: Int J Pediatr Otorhinolaryngol Country: Ireland |
Other Details:
|
Languages: eng Pagination: 825-7 Citation Subset: IM |
Copyright Information:
|
Copyright 2010 Elsevier Ireland Ltd. All rights reserved. |
Affiliation:
|
Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple
/
genetics Adolescent Adult Female Hearing Loss, Sensorineural / genetics* Humans Hyperpigmentation / genetics Male Mutation* Nucleoside Transport Proteins / genetics* Syndrome |
| Chemical | |
Reg. No./Substance:
|
0/Nucleoside Transport Proteins; 0/SLC29A3 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: B cell expression of the inhibitory Fcgamma receptor is unchanged in early MS.
Next Document: Comparison between myringotomy and tympanostomy tubes in combination with adenoidectomy in 3-7-year-...