Craniofacial characteristics in Van der Woude syndrome

To describe the particular craniofacial characteristics of Van der Woude syndrome(VWS) patients compared to patients with a non-syndromic cleft (CG1) and to a malocclusive healthy population (CG2).

Retrospective case-control study. A sample of 110 matched-patients was recruited (VWS (n = 7), CG1 (n = 49), CG2 (n = 49)). Subsequently, 37 radiometric variables were analysed and the dental-skeletal ages were determined. The intra/inter-observer method errors were quantified. Descriptive statistics were computed, and different inferential analysis tests were used depending on the normality of the data (Chi-square test, Fisher's exact test, paired Student's T-test, Mann-Whitney U test) (p-value < 0.05). Pairwise comparisons were corrected by Bonferroni's criteria.

VW-patients presented specific craniofacial characteristics and morphology. A marked tendency to the vertical growth pattern was found in VW-patients compared to CG1-CG2 (p < 0.001); at the sagittal level, skeletal class II caused by mandibular retrognathism, with a greatly increased ANB angle compared to CG1 (p = 0.042). Dental analysis showed that the lower incisor was more retruded and retroclined (p < 0.05 in all cases) and the interincisal angulation was increased (p < 0.001 (CG2)). At the profile level, an open nasolabial angle (p = 0.040; CG1) and a more protruding lower lip with respect to the Sn-Pg plane (p = 0.040 (CG1); p = 0.044 (CG2)) were observed.

VW-patients present particular characteristics in the facial skeletal structures. There is a critical necessity to increase the evidence regarding specific clinical features and orofacial pathology of rare diseases such as VWS, which will help to these minorities to gain access in the future to a better quality of care with precise treatment and diagnostic necessities.