Early-onset sensorineural hearing loss is a prominent feature of H syndrome.
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.
Ramot
Yuval
Y
Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Sayama
Koji
K
Sheffer
Ruth
R
Doviner
Victoria
V
Hiller
Nurith
N
Kaufmann-Yehezkely
Michal
M
Zlotogorski
Abraham
A
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
D033703:Nucleoside Transport Proteins; C501424:SLC29A3 protein, human