Cleft types, lower-lip pits, and lip pit surgeries in individuals with Van der Woude syndrome in Finland.
This single-center retrospective study of 151 Finnish individuals with Van der Woude syndrome found that cleft palate predominated, lip pits were present in 93% of patients with available data, and repeat lip-pit surgery was most frequent among patients with bilateral cleft lip and palate.
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This single-center retrospective study of 151 Finnish individuals with Van der Woude syndrome found that cleft palate predominated, lip pits were present in 93% of patients with available data, and repeat lip-pit surgery was most frequent among patients with bilateral cleft lip and palate.
Research significance
The evidence supports an association between cleft phenotype and patterns of lip-pit surgery, but not the effectiveness of any treatment; as an inference, cleft type might help anticipate surgical burden and guide counseling or follow-up planning, particularly for bilateral cleft lip and palate.
Source abstract
BACKGROUND: Van der Woude syndrome (VWS) may display varied clinical features. We aimed to determine cleft types, lower lip pits, and lip pit surgeries in a large VWS cohort in Finland. MATERIALS AND METHODS: This is a single-center retrospective, observational patient record study performed at national centralized cleft center that evaluated 151 individuals with VWS born between 1946 and 2019. Information regarding sex, cleft type, lip pit presence, and the number of lip pit surgeries were gathered from patient records. RESULTS: Sixty per cent of the individuals with VWS were female and 40% were male (p < 0.01). The majority (105/151; 70%) of the individuals with VWS presented with clefts in the palate region (p < 0.01). Cleft lip (CL) occurred in 7.3% and cleft lip and palate (CLP) in 21.5% and no cleft in 2.6% of individuals with VWS. Information on lip pits was available for 127/151 patients. Lip pits were present in 93% of patients. Lip pits were surgically removed more frequently in unilateral cleft lip and palate (UCLP) (84.6%) and bilateral cleft lip and palate (BCLP) (66.7%) compared with cleft palate (CP) (8.8%) (p < 0.001). Recurrent surgery for lip pits occurred more often in BCLP (46.4%) than in UCLP (6.7%) and CP (1.3%). CONCLUSIONS: In Finland, cleft palate is the predominant cleft type in VWS. Cleft type distribution in VWS reflects the frequencies of non-syndromic clefts in Finland, deviating from trends observed in other countries. Lip pits are more commonly removed in UCLP or BCLP than in CP only. Furthermore, recurrent surgeries for lip pits occur more frequently in individuals with BCLP.