PMID: 8588850Jan 1, 1995Paper

Phenotypic variability in van der Woude syndrome

Genetic Counseling
D LacombeA Verloes

Abstract

The association of lower lip pits with cleft lip and/or palate defines the van der Woude syndrome (VWS). VWS has an autosomal dominant mode of inheritance wiht a high penetrance and a variable expression. A gene involved in the origin of VWS is linked to loci on chromosome 1q32-q41. The gene might be involved in the programmed cell death of neural crest derived cells. Other malformations have been associated with the syndrome (dental defects, syngnathia, limb abnormalities, popliteal webs...). We report 4 cases with VWS demonstrating the wide clinical variability. One case shows brain abnormalities that might be part of the clinical spectrum of VWS.

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Apoptosis

Apoptosis is a specific process that leads to programmed cell death through the activation of an evolutionary conserved intracellular pathway leading to pathognomic cellular changes distinct from cellular necrosis

Related Papers

Scandinavian Journal of Plastic and Reconstructive Surgery and Hand Surgery
Ulvi GunerArman Cagdas
The Journal of Clinical Pediatric Dentistry
N M KingA M E Sanares
The Journal of Craniofacial Surgery
Shahram BaghestaniHekmat Alghasi
Indian Journal of Dental Research : Official Publication of Indian Society for Dental Research
Gargi S SarodeMeena A Kulkarni
© 2021 Meta ULC. All rights reserved