Document Detail

The carpenter syndrome phenotype.
MedLine Citation:
PMID:  15129947     Owner:  NLM     Status:  MEDLINE    
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.
Erkan Tarhan; Haldun Oğuz; Mustafa Asim Safak; Erdal Samim
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  International journal of pediatric otorhinolaryngology     Volume:  68     ISSN:  0165-5876     ISO Abbreviation:  Int. J. Pediatr. Otorhinolaryngol.     Publication Date:  2004 Mar 
Date Detail:
Created Date:  2004-05-07     Completed Date:  2004-06-10     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8003603     Medline TA:  Int J Pediatr Otorhinolaryngol     Country:  Ireland    
Other Details:
Languages:  eng     Pagination:  353-7     Citation Subset:  IM    
Ministry of Health, Ankara Training and Research Hospital, Clinic of Otolaryngology, Ankara, Turkey.
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MeSH Terms
Acrocephalosyndactylia / diagnosis*
Audiometry, Evoked Response
Hearing Loss, Sensorineural / congenital*,  diagnosis*

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