Document Detail


The carpenter syndrome phenotype.
MedLine Citation:
PMID:  15129947     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Erkan Tarhan; Haldun Oğuz; Mustafa Asim Safak; Erdal Samim
Related Documents :
11669177 - Juvenile idiopathic polyarticular arthritis and iga deficiency in the 22q11 deletion sy...
1831297 - Dental caries and periodontitis in persons with down syndrome.
8163917 - Coffin-lowry syndrome with sensorineural deafness and labyrinthine anomaly.
8669437 - Ichthyosis-characteristic appearance-mental retardation syndrome with distinct histolog...
16760737 - Two brothers with goldberg-shprintzen syndrome.
6142857 - An unusual variant of multiple endocrine neoplasia syndrome: a case report.
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    
Affiliation:
Ministry of Health, Ankara Training and Research Hospital, Clinic of Otolaryngology, Ankara, Turkey.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Acrocephalosyndactylia / diagnosis*
Audiometry, Evoked Response
Child
Hearing Loss, Sensorineural / congenital*,  diagnosis*
Humans
Male
Phenotype
Syndrome

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Speech perception and speech intelligibility in children after cochlear implantation.
Next Document:  Two unusual lesions in the nasal cavity of infants--a nasal chondromesenchymal hamartoma and an aneu...