Abstract:
: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.
journal_name
Clin Dysmorpholjournal_title
Clinical dysmorphologyauthors
Derbent M,Orün UA,Varan B,Mercan S,Yilmaz Z,Sahin FI,Tokel Kdoi
10.1097/00019605-200501000-00006subject
Has Abstractpub_date
2005-01-01 00:00:00pages
27-30issue
1eissn
0962-8827issn
1473-5717pii
00019605-200501000-00006journal_volume
14pub_type
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
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pub_type: 杂志文章,评审
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
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