| A new syndrome within the oculo-auriculo-vertebral spectrum: microtia, atresia of the external auditory canal, vertebral anomaly, and complex cardiac defects. | |
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MedLine Citation:
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PMID: 15602090 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Murat Derbent; Utku A Orün; Birgül Varan; Sükrü Mercan; Zerrin Yilmaz; Feride I Sahin; Kürsad Tokel |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 14 ISSN: 0962-8827 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 2005 Jan |
Date Detail:
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Created Date: 2004-12-16 Completed Date: 2005-05-26 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: England |
Other Details:
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Languages: eng Pagination: 27-30 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Baskent University Faculty of Medicine, Ankara, Turkey. muratder@superonline.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis*,
pathology Child Ear / abnormalities* Eye Abnormalities / diagnosis*, pathology Heart Defects, Congenital / diagnosis*, pathology Humans Male Spine / abnormalities* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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