The Carpenter syndrome phenotype

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

International Journal of Pediatric Otorhinolaryngology, vol.68, no.3, pp.353-357, 2004 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 68 Issue: 3
  • Publication Date: 2004
  • Doi Number: 10.1016/j.ijporl.2003.10.009
  • Journal Name: International Journal of Pediatric Otorhinolaryngology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.353-357
  • Keywords: Carpenter syndrome, sensorineural hearing, deficit, ABR, CLINICAL SPECTRUM, SUMMITT, GOODMAN
  • Lokman Hekim University Affiliated: No

Abstract

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.