title: 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.
authors.affiliation: Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Yuval
authors.initials: Y
authors.lastname: Ramot
authors.forename: Koji
authors.initials: K
authors.lastname: Sayama
authors.forename: Ruth
authors.initials: R
authors.lastname: Sheffer
authors.forename: Victoria
authors.initials: V
authors.lastname: Doviner
authors.forename: Nurith
authors.initials: N
authors.lastname: Hiller
authors.forename: Michal
authors.initials: M
authors.lastname: Kaufmann-Yehezkely
authors.forename: Abraham
authors.initials: A
authors.lastname: Zlotogorski
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics; D008297:Male; D009154:Mutation; D033703:Nucleoside Transport Proteins / Q000235:genetics*; D013577:Syndrome
chemical_list: D033703:Nucleoside Transport Proteins; C501424:SLC29A3 protein, human