Audiological findings of a patient with H syndrome: case report

Hussein D., ALTIN B., BAJİN M. D.

EGYPTIAN JOURNAL OF OTOLARYNGOLOGY, cilt.37, sa.1, 2021 (ESCI) identifier identifier

  • 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.