Audiological findings of a patient with H syndrome: case report
EGYPTIAN JOURNAL OF OTOLARYNGOLOGY, cilt.37, sa.1, 2021 (ESCI)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 37 Sayı: 1
- Basım Tarihi: 2021
- Doi Numarası: 10.1186/s43163-021-00185-8
- Dergi Adı: EGYPTIAN JOURNAL OF OTOLARYNGOLOGY
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI)
- Anahtar Kelimeler: H syndrome, Sensorineural hearing loss, Genetic hearing loss, Case report, HEARING-LOSS, MUTATION, SKIN
- Hacettepe Üniversitesi Adresli: Evet
Özet
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.