Van der Woude syndrome. A case report.

Abstract

We describe several members of a family with Van der Woude syndrome, a genetic and congenital malformation syndrome with autosomal dominant inheritance and 70% to 80% penetrance with variable expressivity. It is characterized by clinical signs localized to the face, such as bilateral or unilateral pits on conical elevations in babies or extensive depressions in adults, both in the vermilion border of the lower lip, with cleft lip, with or without cleft palate and uvula. Small accessory or heterotopic salivary glands empty into sinuses or fistulas in the lips. This eight member family had various clinical signs of the condition. All had cleft lip and palate. We studied the major characteristics of the eight patients and describe histopathologic and immunohistochemical features.

Monozygotic twins with variable expression of Van der Woude Syndrome

“…The case reported by Tokat et al [2005] was of twins who both had lip pits; one had a cleft lip and the other a cleft palate. Phenotype concordance in MZ twins has been reported by Hersh and Verdi [1992] and Vignale et al [1998].…”

Monozygotic twins with variable expression of Van der Woude Syndrome

“…The case reported by Tokat et al [2005] was of twins who both had lip pits; one had a cleft lip and the other a cleft palate. Phenotype concordance in MZ twins has been reported by Hersh and Verdi [1992] and Vignale et al [1998].…”

Toward an orofacial gene regulatory network

“…While the phenotype suggests VWS can be a clinical model for iCLP, is there evidence that VWS can be a genetic model for iCLP? As a Mendelian disorder, familial studies are a critical component in VWS research (Cervenka et al, ; Vignale et al, ; Kondo et al, ). Houdayer et al () used a family design to ask if VWS and iCLP were associated in a parametric linkage analysis and transmission disequilibrium tests (TDT) (Houdayer et al, ).…”

Monozygotic twins with variable expression of Van der Woude Syndrome

“…The case reported by Tokat et al [2005] was of twins who both had lip pits; one had a cleft lip and the other a cleft palate. Phenotype concordance in MZ twins has been reported by Hersh and Verdi [1992] and Vignale et al [1998].…”

Toward an orofacial gene regulatory network

“…While the phenotype suggests VWS can be a clinical model for iCLP, is there evidence that VWS can be a genetic model for iCLP? As a Mendelian disorder, familial studies are a critical component in VWS research (Cervenka et al, ; Vignale et al, ; Kondo et al, ). Houdayer et al () used a family design to ask if VWS and iCLP were associated in a parametric linkage analysis and transmission disequilibrium tests (TDT) (Houdayer et al, ).…”

Monozygotic twins with variable expression of Van der Woude Syndrome

“…The case reported by Tokat et al [2005] was of twins who both had lip pits; one had a cleft lip and the other a cleft palate. Phenotype concordance in MZ twins has been reported by Hersh and Verdi [1992] and Vignale et al [1998].…”

Toward an orofacial gene regulatory network

“…While the phenotype suggests VWS can be a clinical model for iCLP, is there evidence that VWS can be a genetic model for iCLP? As a Mendelian disorder, familial studies are a critical component in VWS research (Cervenka et al, ; Vignale et al, ; Kondo et al, ). Houdayer et al () used a family design to ask if VWS and iCLP were associated in a parametric linkage analysis and transmission disequilibrium tests (TDT) (Houdayer et al, ).…”