Document Detail

A new syndrome within the oculo-auriculo-vertebral spectrum: microtia, atresia of the external auditory canal, vertebral anomaly, and complex cardiac defects.
MedLine Citation:
PMID:  15602090     Owner:  NLM     Status:  MEDLINE    
We describe a patient whose features represent a new entity within the oculo-auriculo-vertebral spectrum. The boy had right microtia, atresia of the external auditory canal, growth retardation, a complex heart defect, and extra-lobar pulmonary sequestration. The cardiac anomalies were persistent left superior vena cava, aortic stenosis, bicuspid aortic valves and subaortic membrane. Spinal films revealed complete fusion of the C2-C3 and C5-C6 vertebrae, and scoliosis of the lumbar spine. The patient's mental development was normal, and there were no abnormalities on ophthalmological examination. This report, reviews features of similar published cases, and argues why this may represent a 'new' entity within the oculo-auriculo-vertebral spectrum. The cardinal features are microtia, atresia of the external auditory canal, complex cardiac defects, growth retardation, normal mental and motor development in most cases and vertebral anomalies. All six of the patients reviewed were male raising the possibility of X-linked inheritance.
Murat Derbent; Utku A Orün; Birgül Varan; Sükrü Mercan; Zerrin Yilmaz; Feride I Sahin; Kürsad Tokel
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  14     ISSN:  0962-8827     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2005 Jan 
Date Detail:
Created Date:  2004-12-16     Completed Date:  2005-05-26     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  27-30     Citation Subset:  IM    
Department of Pediatrics, Baskent University Faculty of Medicine, Ankara, Turkey.
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MeSH Terms
Abnormalities, Multiple / diagnosis*,  pathology
Ear / abnormalities*
Eye Abnormalities / diagnosis*,  pathology
Heart Defects, Congenital / diagnosis*,  pathology
Spine / abnormalities*

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