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The Van der Woude syndrome (dominantly inherited lip pits and clefts).
| Content Provider | Semantic Scholar |
|---|---|
| Author | Schinzel, Albert A. G. L. Kläusler, M. |
| Copyright Year | 1986 |
| Abstract | A patient with symmetrical lower lip pits with or without cleft lip or palate is most likely to be the carrier of a dominant gene that causes the syndrome of lip pits and clefts or Van der Woude syndrome. Familial occurrence of lower lip pits and clefts was first described by Demarquay in 1845.1 Watanabe et a12 reviewed some 100 cases in 1951, and Van der Woude delineated the syndrome in 1954.3 Further important contributions came from Cervenka et al,4 who presented 66 personally observed cases and reviewed some 450 others, and Rintala and Ranta,' who studied the incidence among cleft cases from the Finnish malformation registry. Finally, Burdick et a16 performed a genetic analysis of 864 cases. |
| Starting Page | 1313 |
| Ending Page | 1321 |
| Page Count | 9 |
| File Format | PDF HTM / HTML |
| Alternate Webpage(s) | http://jmg.bmj.com/content/jmedgenet/23/4/291.full.pdf |
| PubMed reference number | 3746828v1 |
| Volume Number | 23 |
| Issue Number | 4 |
| Journal | Journal of medical genetics |
| Language | English |
| Access Restriction | Open |
| Subject Keyword | A16 message structure Cleft Lip Congenital Abnormality Lambert-Eaton Myasthenic Syndrome Lip pit Lower lip structure Patients Registries Van der Woude syndrome Wolff-Parkinson-White Syndrome |
| Content Type | Text |
| Resource Type | Article |
