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Conference Paper: Restrictive dermopathy with massive thrombosis: a previously uncreognized finding

TitleRestrictive dermopathy with massive thrombosis: a previously uncreognized finding
Authors
Issue Date2009
Citation
The 59th Annual Meeting of the American Society of Human Genetics (ASHG 2009), Honolulu, HI., 20-24 October 2009. How to Cite?
AbstractRestrictive dermopathy (RD) is a lethal genodermatosis characterized by IUGR, tight and rigid skin, prominent superficial vasculature, epidermal hyperkeratosis, typical facial features, sparse/absent eyelashes and eyebrows, thin dysplastic clavicles, pulmonary hypoplasia and arthrogryposis. It is caused by LMNA or, more frequently, ZMPSTE24 mutations. We report 2 siblings with RD and ZMPSTE24 mutations. CASE REPORT: The mother is 28y G2P1. The couple was 1st cousin of Pakistani origin. Family history was unremarkable. The 1st pregnancy resulted in IUD at 27w, preceded by decreased fetal movement, oligohydramnios and IUGR at 24w. Autopsy was inconclusive and G-banding was not possible. Placenta showed ...
Persistent Identifierhttp://hdl.handle.net/10722/197325

 

DC FieldValueLanguage
dc.contributor.authorHinek, Aen_US
dc.contributor.authorChung, BHYen_US
dc.contributor.authorShannon, Pen_US
dc.contributor.authorTeitelbaum, Ren_US
dc.contributor.authorChitayat, Den_US
dc.date.accessioned2014-05-23T02:42:26Z-
dc.date.available2014-05-23T02:42:26Z-
dc.date.issued2009en_US
dc.identifier.citationThe 59th Annual Meeting of the American Society of Human Genetics (ASHG 2009), Honolulu, HI., 20-24 October 2009.en_US
dc.identifier.urihttp://hdl.handle.net/10722/197325-
dc.description.abstractRestrictive dermopathy (RD) is a lethal genodermatosis characterized by IUGR, tight and rigid skin, prominent superficial vasculature, epidermal hyperkeratosis, typical facial features, sparse/absent eyelashes and eyebrows, thin dysplastic clavicles, pulmonary hypoplasia and arthrogryposis. It is caused by LMNA or, more frequently, ZMPSTE24 mutations. We report 2 siblings with RD and ZMPSTE24 mutations. CASE REPORT: The mother is 28y G2P1. The couple was 1st cousin of Pakistani origin. Family history was unremarkable. The 1st pregnancy resulted in IUD at 27w, preceded by decreased fetal movement, oligohydramnios and IUGR at 24w. Autopsy was inconclusive and G-banding was not possible. Placenta showed ...-
dc.languageengen_US
dc.relation.ispartofASHG Annual Meeting 2009en_US
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.titleRestrictive dermopathy with massive thrombosis: a previously uncreognized findingen_US
dc.typeConference_Paperen_US
dc.identifier.emailChung, BHY: bhychung@hku.hken_US
dc.identifier.authorityChung, BHY=rp00473en_US
dc.description.naturepostprint-
dc.identifier.hkuros167726en_US

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