| Novel features in auriculo-condylar syndrome. | |
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MedLine Citation:
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PMID: 20733479 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Auriculo-condylar syndrome (ACS, OMIM 602483) is an autosomal dominant condition with marked phenotypic variability. In some patients, the condition may be limited to the auricular deformity which can vary from auricular cleft, cupped helix to the 'question mark' ear, where there is constriction between the middle and lower thirds of the ear. The latter has also been reported in isolation. Other clinical features are; facial asymmetry, round faces with prominent cheeks, microstomia, micrognathia, dental malocclusion and hearing loss. Radiological findings include abnormalities of the temporomandibular joint and/or the mandibular condyle. We describe nine ACS patients (five familial, four singleton) with novel clinical signs including facial clefts, pre-auricular and cheek pits further delineating the features of this highly variable condition. Delayed diagnosis is a common feature suggesting that ACS is largely unrecognized and may be more common than the literature suggests. |
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Authors:
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Ruth McGowan; Victoria Murday; Esther Kinning; Sixto Garcia; David Koppel; Margo Whiteford |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 20 ISSN: 1473-5717 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 2011 Jan |
Date Detail:
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Created Date: 2010-12-08 Completed Date: 2011-03-16 Revised Date: 2011-12-06 |
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: 1-10 Citation Subset: IM |
Affiliation:
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Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospital, Glasgow, UK. ruth.mcgowan@ggc.scot.nhs.uk |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Child Child, Preschool Ear / abnormalities, radiography Ear Diseases* / radiography Female Humans Infant Infant, Newborn Male Middle Aged Pedigree Pregnancy Tomography, X-Ray Computed Young Adult |
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