A Turkish family with Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome is a very rare autosomal dominant disease characterized by postaxial polysyndactyly of hands, preaxial polysyndactyly of feet and peculiar facial features, and has been shown to be due to mutations in the GLI3 gene. We present clinical findings of a 39-yea...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
1999-04-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/3230 |
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| _version_ | 1850028906720002048 |
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| author | K Boduroğlu S Balci M Topçu |
| author_facet | K Boduroğlu S Balci M Topçu |
| author_sort | K Boduroğlu |
| collection | DOAJ |
| description |
Greig cephalopolysyndactyly syndrome is a very rare autosomal dominant disease characterized by postaxial polysyndactyly of hands, preaxial polysyndactyly of feet and peculiar facial features, and has been shown to be due to mutations in the GLI3 gene. We present clinical findings of a 39-year-old man and his nine-day-old daughter with Greig cephalopolysyndactyly who showed variable expression with regard to syndactyly of fingers and toes. The role of obstetric ultrasonography in the prenatal diagnosis of the syndrome is also discussed.
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| format | Article |
| id | doaj-art-1e00eb2509fd41d48a51b9bfb589bb77 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 1999-04-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-1e00eb2509fd41d48a51b9bfb589bb772025-08-20T02:59:42ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64211999-04-01412A Turkish family with Greig cephalopolysyndactyly syndromeK Boduroğlu0S BalciM TopçuDepartment of Pediatrics, Hacettepe University Faculty of Medicine, Ankara. Greig cephalopolysyndactyly syndrome is a very rare autosomal dominant disease characterized by postaxial polysyndactyly of hands, preaxial polysyndactyly of feet and peculiar facial features, and has been shown to be due to mutations in the GLI3 gene. We present clinical findings of a 39-year-old man and his nine-day-old daughter with Greig cephalopolysyndactyly who showed variable expression with regard to syndactyly of fingers and toes. The role of obstetric ultrasonography in the prenatal diagnosis of the syndrome is also discussed. https://turkjpediatr.org/article/view/3230 |
| spellingShingle | K Boduroğlu S Balci M Topçu A Turkish family with Greig cephalopolysyndactyly syndrome The Turkish Journal of Pediatrics |
| title | A Turkish family with Greig cephalopolysyndactyly syndrome |
| title_full | A Turkish family with Greig cephalopolysyndactyly syndrome |
| title_fullStr | A Turkish family with Greig cephalopolysyndactyly syndrome |
| title_full_unstemmed | A Turkish family with Greig cephalopolysyndactyly syndrome |
| title_short | A Turkish family with Greig cephalopolysyndactyly syndrome |
| title_sort | turkish family with greig cephalopolysyndactyly syndrome |
| url | https://turkjpediatr.org/article/view/3230 |
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