並列摘要
Van der Woude syndrome (VWS) is a rare autosomal dominant clefting syndrome with high penetrance and variable expressions. It is a common cause of syndromic orofacial clefting, accounting for 2% of cleft lip and cleft palate cases. Clinical manifestation includes bilateral lower lip pits, cleft lip, and cleft palate along with hypodontia. It is one of the few syndromes that present a mixture of cleft lip and cleft palate phenotypes in the same family. This case report presents two siblings both affected by VWS with different phenotypes, and facilitates the understanding of the etiology of malformation, epidemiology, clinical manifestations and associated features.
延伸閱讀
- Ko, Y. C., Yen, M. Y., Wang, A. G., Hsu, W. M., & Liu, J. H. (2000). Wolfram氏症候群－病例報告. 中華民國眼科醫學會雜誌, 39(2), 207-212. https://doi.org/10.30048/ACTASOS.200006.0011
- 楊正烽、翁林仲、陳慕師（1995）。Schwartz症候群－病例報告。中華民國眼科醫學會雜誌，34(2)，253-257。https://doi.org/10.30048/ACTASOS.199506.0016
- 林棋民、蔡鶴峰、吳志順、馬鴻均（1995）。Peutz-Jeghers症候群：病例報告。Journal of Medical Sciences，16(3)，182-188。https://www.airitilibrary.com/Article/Detail?DocID=10114564-199512-201306200025-201306200025-182-188
- Huang, H. C., Hsieh, C. C., & Hsu, W. H. (2009). Boerhaave氏症候群－病例報告. 胸腔醫學, 24(1), 49-53. https://doi.org/10.29806/TM.200902.0007
- 容佳珮、汪靜蓉（2014）。狄蘭氏症候群：病例報告。臺灣兒童牙醫學雜誌，14(4)，22-30。https://doi.org/10.6319/TJPD.2014.14(4).4