Clinical Findings and Outcomes of Palatal Repair in 9 Patients With Van der Woude Syndrome

Karam Ahmed Allam, Mostafa Mamdoh Haredy
Annals of Plastic Surgery 2020 December 16, Publish Ahead of Print

INTRODUCTION: Van der Woude syndrome (VWS), an autosomal dominant condition associated with clefts of the lip and/or palate and lower lip pits, is caused by mutations in interferon regulatory factor 6 gene. It is reported to be the most common syndromic cleft worldwide. This case series presents the phenotypic characteristics and treatment outcomes in a group of 9 patients diagnosed with VWS.

METHODS: A retrospective review was performed on records of patients given a diagnosis of VWS presenting to the Department of Plastic Surgery of Sohag University between July 2009 and November 2019. Data analyses included age and sex of affected patients, type of the cleft, associated anomalies, presence of lower lip pits, and history of lower lip pits/cleft in the family and treatment outcomes.

RESULTS: The study identified 9 patients (male = 2, female = 7). Age at first presentation ranged between 1 week and 7 years (mean = 1.3 years). Four patients had bilateral cleft lip and palate and 1 patient had unilateral cleft lip and palate (UCLP), whereas 4 patients had isolated cleft palate. Bilateral lower lip pits were presented in 8 patients, whereas the ninth patient has unilateral pit. Family history was positive in 3 patients. Most patients in this study developed after palatal repair speech problems with an increased rate of secondary surgical procedures needed for correction of velopharyngeal insufficiency.

CONCLUSIONS: All reviewed cases of VWS presented with lower lip pits and cleft palate with or without cleft lip. A positive family history of similar conditions was demonstrated in 33.3% of our patients. This study suggests an increased incidence of secondary palatal surgeries for velopharyngeal insufficiency in patients with VWS; this warrant further studies including control group of nonsyndromic cleft patients.

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