The carpenter syndrome phenotype.
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.
Tarhan
Erkan
E
Ministry of Health, Ankara Training and Research Hospital, Clinic of Otolaryngology, Ankara, Turkey.
Oğuz
Haldun
H
Safak
Mustafa Asim
MA
Samim
Erdal
E
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