title: The carpenter syndrome phenotype.
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.
authors.affiliation: Ministry of Health, Ankara Training and Research Hospital, Clinic of Otolaryngology, Ankara, Turkey.
authors.forename: Erkan
authors.initials: E
authors.lastname: Tarhan
authors.forename: Haldun
authors.initials: H
authors.lastname: Oğuz
authors.forename: Mustafa Asim
authors.initials: MA
authors.lastname: Safak
authors.forename: Erdal
authors.initials: E
authors.lastname: Samim
mesh_terms: D000168:Acrocephalosyndactylia / Q000175:diagnosis*; D001300:Audiometry, Evoked Response; D002648:Child; D006319:Hearing Loss, Sensorineural / Q000151:congenital* / Q000175:diagnosis*; D006801:Humans; D008297:Male; D010641:Phenotype; D013577:Syndrome