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Conference Paper: Restrictive dermopathy with massive thrombosis: a previously uncreognized finding
| Title | Restrictive dermopathy with massive thrombosis: a previously uncreognized finding |
|---|---|
| Authors | |
| Issue Date | 2009 |
| Citation | The 59th Annual Meeting of the American Society of Human Genetics (ASHG 2009), Honolulu, HI., 20-24 October 2009. How to Cite? |
| Abstract | Restrictive 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 Identifier | http://hdl.handle.net/10722/197325 |
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Hinek, A | en_US |
| dc.contributor.author | Chung, BHY | en_US |
| dc.contributor.author | Shannon, P | en_US |
| dc.contributor.author | Teitelbaum, R | en_US |
| dc.contributor.author | Chitayat, D | en_US |
| dc.date.accessioned | 2014-05-23T02:42:26Z | - |
| dc.date.available | 2014-05-23T02:42:26Z | - |
| dc.date.issued | 2009 | en_US |
| dc.identifier.citation | The 59th Annual Meeting of the American Society of Human Genetics (ASHG 2009), Honolulu, HI., 20-24 October 2009. | en_US |
| dc.identifier.uri | http://hdl.handle.net/10722/197325 | - |
| dc.description.abstract | Restrictive 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.language | eng | en_US |
| dc.relation.ispartof | Annual Meeting of the American Society of Human Genetics, ASHG 2009 | en_US |
| dc.title | Restrictive dermopathy with massive thrombosis: a previously uncreognized finding | en_US |
| dc.type | Conference_Paper | en_US |
| dc.identifier.email | Chung, BHY: bhychung@hku.hk | en_US |
| dc.identifier.authority | Chung, BHY=rp00473 | en_US |
| dc.description.nature | postprint | - |
| dc.identifier.hkuros | 167726 | en_US |