J Korean Assoc Oral Maxillofac Surg.  2017 Aug;43(4):267-271. 10.5125/jkaoms.2017.43.4.267.

Van der Woude syndrome presenting as a single median lower lip pit with associated dental, orofacial and limb deformities: a rare case report

• Richardson S
• Khandeparker RV

• KMID: 2391358
• DOI: http://doi.org/10.5125/jkaoms.2017.43.4.267

Abstract

Although it is a rare developmental malformation, van der Woude syndrome is the most common form of syndromic orofacial clefting, accounting for approximately 2% of all cleft cases. The lower lip pits with or without a cleft lip or palate is characteristic of the syndrome. Findings, such as hypodontia, limb deformities, popliteal webs, ankylogossia, ankyloblepheron, and genitourinary and cardiovascular abnormalities, are rarely associated with the syndrome. This paper reports a rare case of van der Woude syndrome in a 10-year-old male patient with a single median lower lip pit and a repaired bilateral cleft lip and cleft palate that were associated with microstomia, hypodontia, and clubbing of the left foot with syndactyly of the second to fifth lesser toes of the same foot.

Keyword

Van der Woude syndrome; Cleft lip; Cleft palate; Lip pits; Club foot

MeSH Terms

Anodontia
Cardiovascular Abnormalities
Child
Cleft Lip
Cleft Palate
Congenital Abnormalities*
Extremities*
Foot
Humans
Lip*
Male
Microstomia
Palate
Syndactyly
Toes

Figure

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  Fig. 1 Preoperative photographs of the patient. A. Frontal view showing the lower lip deformity. B. Profile view demonstrating maxillary hypoplasia. C. Close-up view showing the single median lower lip pit with bilateral scars of previous surgery for cleft palate repair.

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  Fig. 2 Photograph of the left foot. A. Photograph demonstrating clubbing of the left foot. B. Photograph showing syndactyly of the second to fifth lesser toes of the left foot.

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  Fig. 3 Intraoral views and orthopantamogram view. A. Photograph demontrating clinically missing maxillary right central incisor and right and left lateral incisors. The palatal scar of previous palatoplasty surgery also evident (arrow). B. Photograph demonstrating overretained mandibular deciduous left second molar (arrow). C. Orthopantamogram showing missing tooth germs of maxillary right central incisor, right and left lateral incisors and of mandibular left second premolar.

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  Fig. 4 Intraoperative photograph demonstrating the closure of the surgical wound following vertical wedge excision of the lower lip pit.

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  Fig. 5 Postoperative photographs of the patient. A. Close-up view showing a cosmetically acceptable scar following vertical wedge excision of the lower lip pit. B. Photograph showing microstomia.

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