EGYPTIAN JOURNAL OF OTOLARYNGOLOGY, vol.37, no.1, 2021 (ESCI)
Article / Article
EGYPTIAN JOURNAL OF OTOLARYNGOLOGY
Emerging Sources Citation Index (ESCI)
H syndrome, Sensorineural hearing loss, Genetic hearing loss, Case report, HEARING-LOSS, MUTATION, SKIN
Hacettepe University Affiliated:
Background: H syndrome is an autosomal recessive disorder caused by mutations in SLC29A3. Hyperpigmentation, hypertrichosis, hyperglycemia, and hearing loss are some characteristics of this disorder, and it has a prevalence of < 1/1000. The aim of this report is to spread awareness among otologists, audiologists, and pediatricians about this syndrome and its audiological features.