The Carpenter syndrome phenotype

Tarhan E., OĞUZ H., Şafak M. A., Samim E.

International Journal of Pediatric Otorhinolaryngology, cilt.68, sa.3, ss.353-357, 2004 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 68 Sayı: 3
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1016/j.ijporl.2003.10.009
  • Dergi Adı: International Journal of Pediatric Otorhinolaryngology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.353-357
  • Anahtar Kelimeler: Carpenter syndrome, sensorineural hearing, deficit, ABR, CLINICAL SPECTRUM, SUMMITT, GOODMAN
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

Carpenter syndrome (Acrocephalopolysyndactyly type II), first described in 1901, consists of acrocephaly, syndactyly, polydactyly, congenital heart disease, mental retardation, hypogenitalism, cryptorchidism, obesity, umbilical hernia and bony abnormalities. We report a 6 years old boy presenting as a union of these malformations and also having bilateral sensorineural hearing loss. Auditory disturbances are not common among Carpenter syndrome patients. According to our knowledge, this is the first Carpenter syndrome case whose hearing loss is demonstrated by auditory brainstem response (ABR) test. © 2003 Elsevier Ireland Ltd. All rights reserved.