The Van der Woude syndrome: a case report and review of the literature
The Van der Woude syndrome: a case report and review of the literature
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范德沃德综合征：病例报告和文献综述
DOI：
10.1111/j.1468-3083.2004.00996.x
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发表时间：
2004
影响因子：
9.2
通讯作者：
Uwe Hillen
中科院分区：
文献类型：
--
作者：
Joachim Dissemond;D. Haberer;T. Franckson;Uwe Hillen
Van der Woude综合征是一种罕见的常染色体显性发育畸形，通常与双侧下唇凹陷有关。这些先天性唇窝在临床上表现为唇朱红色边缘的畸形，伴或不伴排泄。由于遗传缺陷已被确定为染色体带1q32-q41的微缺失，可以考虑对患者进行遗传咨询。干扰素调节因子- 6 （IRF - 6）的无义突变被认为是致病的相关因素。治疗干预通常是不必要的，尽管手术切除特别适用于复发性炎症的患者。医生应该注意Van der Woude综合征，因为有报道称它与多种畸形或其他先天性疾病有关。
The Van der Woude syndrome is a rare autosomal dominant developmental malformation usually associated with bilateral lower lip pits. These congenital lip pits appear clinically as a malformation in the vermilion border of the lip, with or without excretion. As a genetic defect has been identified as a microdeletion of chromosome bands 1q32–q41, genetic counselling of patients may be considered. A nonsense mutation in the interferon regulatory factor‐6 (IRF‐6) is discussed as a pathogenic relevant factor. Therapeutic intervention is generally not necessary, although surgical excision is especially indicated in patients with recurrent inflammation. Physicians should be aware of the Van der Woude syndrome because it has been reported to be associated with a variety of malformations or other congenital disorders.