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Conference Paper: Hand abnormalities in Loeys-Dietz syndrome: expanding the clinical spectrum

TitleHand abnormalities in Loeys-Dietz syndrome: expanding the clinical spectrum
Authors
Issue Date2012
PublisherAmerican Society of Human Genetics.
Citation
The 62nd Annual Meeting of the American Society of Human Genetics (ASHG 2012), San Francisco, CA., 6-10 November 2012. How to Cite?
AbstractLoeys-Dietz syndrome is an autosomal dominant connective tissue disorder characterized by clinical manifestations including hypertelorism, bifid uvula and cleft palate, and arterial tortuosity. We report a patient with LDS with a mutation in the TGFBR2 gene who presented prenatally with clenched fist and clubbed feet and postnatally was found to have digital abnormalities including brachydactyly, camptodactyly, partial syndactyly and absent phalanges. The proband was the first baby born to a healthy non-consanguineous couple. The pregnancy was initially uneventful and fetal ultrasound at 21 wks showed bilateral club feet, small penis, mild right pelvi…
Persistent Identifierhttp://hdl.handle.net/10722/183251

 

DC FieldValueLanguage
dc.contributor.authorChung, Ben_US
dc.contributor.authorHinek, Aen_US
dc.contributor.authorBradley, Ten_US
dc.contributor.authorGrossse-Wortmann, Len_US
dc.contributor.authorBlaser, Sen_US
dc.contributor.authorChitayat, Den_US
dc.date.accessioned2013-05-15T01:50:33Z-
dc.date.available2013-05-15T01:50:33Z-
dc.date.issued2012en_US
dc.identifier.citationThe 62nd Annual Meeting of the American Society of Human Genetics (ASHG 2012), San Francisco, CA., 6-10 November 2012.en_US
dc.identifier.urihttp://hdl.handle.net/10722/183251-
dc.description.abstractLoeys-Dietz syndrome is an autosomal dominant connective tissue disorder characterized by clinical manifestations including hypertelorism, bifid uvula and cleft palate, and arterial tortuosity. We report a patient with LDS with a mutation in the TGFBR2 gene who presented prenatally with clenched fist and clubbed feet and postnatally was found to have digital abnormalities including brachydactyly, camptodactyly, partial syndactyly and absent phalanges. The proband was the first baby born to a healthy non-consanguineous couple. The pregnancy was initially uneventful and fetal ultrasound at 21 wks showed bilateral club feet, small penis, mild right pelvi…-
dc.languageengen_US
dc.publisherAmerican Society of Human Genetics.-
dc.relation.ispartof62nd Annual Meeting of the American Society of Human Genetics, ASHG 2012en_US
dc.titleHand abnormalities in Loeys-Dietz syndrome: expanding the clinical spectrumen_US
dc.typeConference_Paperen_US
dc.identifier.emailChung, B: bhychung@hku.hken_US
dc.identifier.emailChitayat, D: dchitayat@mtsinai.on.ca-
dc.identifier.authorityChung, B=rp00473en_US
dc.description.naturelink_to_OA_fulltext-
dc.identifier.hkuros214055en_US
dc.publisher.placeUnited States-
dc.customcontrol.immutablesml 130605-

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