title: A case of vander woude syndrome with rare phenotypic expressions.
abstract: Van der Woude syndrome (VWS) is a rare developmental disorder with an autosomal dominant inheritance. The prevalence of VWS varies from 1:100,000 to 1:40,000 still born or live births. It has variable expressivity and generally expressed as orofacial manifestations like lower lip pits, cleft lip and/or cleft palate, hypodontia, cleft or bifid uvula, ankyloglossia and some extraoral anomalies involving hand, foot and genitalia. Thorough family history, clinical examination and genetic counseling helps in correct diagnosis of VWS as Popliteal pterygium syndrome has overlapping clinical manifestations. Most cases of Van der Woude syndrome have been associated with mutations and genetic changes. The current case has classical features of VWS with some rare features like undescended small testis and unreported finding of syndactyly of second and third toe adds on to the existing knowledge of VWS presentation.
authors.affiliation: Assistant professor, Department of Oral Medicine and Radiology, King George Medical University , Lucknow,Uttar Pradesh,India .
authors.forename: Anurag
authors.initials: A
authors.lastname: Tripathi
authors.affiliation: Senior Research Fellow, Department of Dental Research & Implantology, Institute of Nuclear Medicine and Allied Sciences (INMAS), Defence Research and Development Organization (DRDO) Ministry of Defence , Government of India, Timarpur, Delhi, India .
authors.forename: Brijesh
authors.initials: B
authors.lastname: Tiwari
authors.affiliation: Associate Professor, Department of Oral Pathology, King George Medical University , Lucknow, Uttar Pradesh, India .
authors.forename: Shalini
authors.initials: S
authors.lastname: Gupta
authors.affiliation: Professor & Head, Department of Oral Medicine and Radiology, King George Medical University , Lucknow, Uttar Pradesh, India .
authors.forename: Ranjit
authors.initials: R
authors.lastname: Patil
authors.affiliation: Assistant Professor, Department of Oral Medicine and Radiology, King George Medical University , Lucknow,Uttar Pradesh,India .
authors.forename: Vikram
authors.initials: V
authors.lastname: Khanna
keywords: Lip pits; Popliteal pterygium syndrome; Syndactyly; Van der woude syndrome