Van der Woude Syndrome

[摘要] On examination of a 28-year-old woman we noticed two pits on her lower lip as a secondary finding. These were asymptomatic and had been present since birth. There had been no attempt at diagnostic classification or further investigation. There were no relevant pathological findings in the patient’s personal or family history, and clinical examination revealed no abnormalities. Paramedian pits on the lower lip, usually bilaterally symmetric, point to Van der Woude syndrome (VDWS). This is a rare disease with autosomal dominant transmission that features pits or fistulas of the lower lip, often associated with cleft lip or cleft palate. There may be salivation from the pits due to communication with the salivary glands. The patient declined surgical correction. The principal differential diagnoses include popliteal pterygium syndrome, orofaciodigital syndrome type 1, congenital megacolon, and scarring, e.g., as a result of piercing. Even the children of patients in whom pits on the lower lip are the sole manifestation of VDWS have a distinctly elevated risk of cleft lip or cleft palate. Timely genetic investigation and counseling is therefore important. We took steps to ensure our patient received the pertinent information.

[学科分类] 医学（综合）