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Conference Paper: Hand abnormalities in Loeys-Dietz syndrome: expanding the clinical spectrum
| Title | Hand abnormalities in Loeys-Dietz syndrome: expanding the clinical spectrum |
|---|---|
| Authors | |
| Issue Date | 2012 |
| Publisher | American 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? |
| Abstract | Loeys-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 Identifier | http://hdl.handle.net/10722/183251 |
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Chung, B | en_US |
| dc.contributor.author | Hinek, A | en_US |
| dc.contributor.author | Bradley, T | en_US |
| dc.contributor.author | Grossse-Wortmann, L | en_US |
| dc.contributor.author | Blaser, S | en_US |
| dc.contributor.author | Chitayat, D | en_US |
| dc.date.accessioned | 2013-05-15T01:50:33Z | - |
| dc.date.available | 2013-05-15T01:50:33Z | - |
| dc.date.issued | 2012 | en_US |
| dc.identifier.citation | The 62nd Annual Meeting of the American Society of Human Genetics (ASHG 2012), San Francisco, CA., 6-10 November 2012. | en_US |
| dc.identifier.uri | http://hdl.handle.net/10722/183251 | - |
| dc.description.abstract | Loeys-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.language | eng | en_US |
| dc.publisher | American Society of Human Genetics. | - |
| dc.relation.ispartof | Annual Meeting of the American Society of Human Genetics, ASHG 2012 | en_US |
| dc.title | Hand abnormalities in Loeys-Dietz syndrome: expanding the clinical spectrum | en_US |
| dc.type | Conference_Paper | en_US |
| dc.identifier.email | Chung, B: bhychung@hku.hk | en_US |
| dc.identifier.email | Chitayat, D: dchitayat@mtsinai.on.ca | - |
| dc.identifier.authority | Chung, B=rp00473 | en_US |
| dc.description.nature | link_to_OA_fulltext | - |
| dc.identifier.hkuros | 214055 | en_US |
| dc.publisher.place | United States | - |
| dc.customcontrol.immutable | sml 130605 | - |