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Early-onset sensorineural hearing loss is a prominent feature of H syndrome.

Abstract：

: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.

journal_name

Int J Pediatr Otorhinolaryngol

journal_title

International journal of pediatric otorhinolaryngology

authors

Ramot Y,Sayama K,Sheffer R,Doviner V,Hiller N,Kaufmann-Yehezkely M,Zlotogorski A

doi

10.1016/j.ijporl.2010.03.053

subject

Has Abstract

pub_date

2010-07-01 00:00:00

pages

825-7

issue

7

eissn

0165-5876

issn

1872-8464

pii

S0165-5876(10)00168-0

journal_volume

74

pub_type

杂志文章

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