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Craniofacial characteristics in Van der Woude syndrome
Blanca Estévez-Arroyo1, Ignacio Gómez-Mendo2, Martín Romero-Maroto3
1Department of Orthodontics, College of Dentistry, University of Seville, Seville, Spain.
Oral Diseases
|March 14, 2022
Summary
Van der Woude syndrome (VWS) patients exhibit distinct craniofacial features, including a vertical growth pattern and mandibular retrognathism. Understanding these unique characteristics is crucial for specialized care in rare orofacial diseases.
Area of Science:
- Craniofacial morphology
- Genetics and rare diseases
- Orthodontics and maxillofacial surgery
Background:
- Van der Woude syndrome (VWS) is a rare genetic disorder characterized by orofacial clefts and lip pits.
- Limited research exists on the specific craniofacial characteristics differentiating VWS patients from other cleft populations.
- Accurate diagnosis and tailored treatment require a detailed understanding of VWS-associated craniofacial morphology.
Purpose of the Study:
- To delineate the unique craniofacial features of Van der Woude syndrome (VWS) patients.
- To compare VWS craniofacial morphology against non-syndromic cleft (CG1) and healthy malocclusive (CG2) control groups.
- To identify specific diagnostic and therapeutic indicators for VWS patients.
Main Methods:
- Retrospective case-control study involving 110 matched patients (7 VWS, 49 CG1, 49 CG2).
- Analysis of 37 radiometric variables and determination of dental-skeletal ages.
- Statistical analysis included Chi-square, Fisher's exact, paired Student's T-test, and Mann-Whitney U tests (p < 0.05), with Bonferroni correction.
Main Results:
- VWS patients displayed a significant vertical growth pattern (p < 0.001) and mandibular retrognathism (skeletal Class II, increased ANB angle, p = 0.042 vs CG1).
- Dental analysis revealed retruded, retroclined lower incisors (p < 0.05) and increased interincisal angulation (p < 0.001 vs CG2).
- Profile analysis showed an open nasolabial angle (p = 0.040 vs CG1) and a more protrusive lower lip (p < 0.05 vs controls).
Conclusions:
- VWS patients possess distinct craniofacial skeletal characteristics, including vertical growth tendencies and specific sagittal and dental anomalies.
- There is a critical need for more research on the clinical features and orofacial pathology of rare diseases like VWS.
- Enhanced evidence will facilitate better diagnostic criteria and tailored treatment strategies, improving care for VWS patients.
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