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Popliteal Pterygium With Van Der Woude Syndrome

Van der Woude syndrome (VWS) is an autosomal dominant syndrome due to mutation of a gene located in the long arm of chromosome 1 (1q32.3-q4) called the interferon regulatory factor-6 (IRF6) gene. VW syndrome-affected children are born with a cleft lip or palate, hypodontia (absent teeth), and bilate...

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Autores principales: Dobs, Monica, Ghamry, Mohamed A, Anvekar, Priyanka, Lohana, Petras, Ali, Syed R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8378313/
https://www.ncbi.nlm.nih.gov/pubmed/34430173
http://dx.doi.org/10.7759/cureus.16573
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author Dobs, Monica
Ghamry, Mohamed A
Anvekar, Priyanka
Lohana, Petras
Ali, Syed R
author_facet Dobs, Monica
Ghamry, Mohamed A
Anvekar, Priyanka
Lohana, Petras
Ali, Syed R
author_sort Dobs, Monica
collection PubMed
description Van der Woude syndrome (VWS) is an autosomal dominant syndrome due to mutation of a gene located in the long arm of chromosome 1 (1q32.3-q4) called the interferon regulatory factor-6 (IRF6) gene. VW syndrome-affected children are born with a cleft lip or palate, hypodontia (absent teeth), and bilateral paramedian lower-lip pits, which are usually moist because they are often associated with accessory salivary glands and mucous glands that empty into the pits. Popliteal pterygium syndrome (PPS), also known as a fasciogenito-popliteal syndrome or popliteal web syndrome is a rare autosomal dominant disorder with an incidence of approximately 1 in 300,000 live births. The most common clinical manifestations are popliteal webbing, cleft palate, cleft lip, syndactyly, and genital and nail anomalies. This report describes the clinical features in one case with positive family history, showing the range of anomalies found in popliteal pterygium with VWS.
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spelling pubmed-83783132021-08-23 Popliteal Pterygium With Van Der Woude Syndrome Dobs, Monica Ghamry, Mohamed A Anvekar, Priyanka Lohana, Petras Ali, Syed R Cureus Genetics Van der Woude syndrome (VWS) is an autosomal dominant syndrome due to mutation of a gene located in the long arm of chromosome 1 (1q32.3-q4) called the interferon regulatory factor-6 (IRF6) gene. VW syndrome-affected children are born with a cleft lip or palate, hypodontia (absent teeth), and bilateral paramedian lower-lip pits, which are usually moist because they are often associated with accessory salivary glands and mucous glands that empty into the pits. Popliteal pterygium syndrome (PPS), also known as a fasciogenito-popliteal syndrome or popliteal web syndrome is a rare autosomal dominant disorder with an incidence of approximately 1 in 300,000 live births. The most common clinical manifestations are popliteal webbing, cleft palate, cleft lip, syndactyly, and genital and nail anomalies. This report describes the clinical features in one case with positive family history, showing the range of anomalies found in popliteal pterygium with VWS. Cureus 2021-07-22 /pmc/articles/PMC8378313/ /pubmed/34430173 http://dx.doi.org/10.7759/cureus.16573 Text en Copyright © 2021, Dobs et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Dobs, Monica
Ghamry, Mohamed A
Anvekar, Priyanka
Lohana, Petras
Ali, Syed R
Popliteal Pterygium With Van Der Woude Syndrome
title Popliteal Pterygium With Van Der Woude Syndrome
title_full Popliteal Pterygium With Van Der Woude Syndrome
title_fullStr Popliteal Pterygium With Van Der Woude Syndrome
title_full_unstemmed Popliteal Pterygium With Van Der Woude Syndrome
title_short Popliteal Pterygium With Van Der Woude Syndrome
title_sort popliteal pterygium with van der woude syndrome
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8378313/
https://www.ncbi.nlm.nih.gov/pubmed/34430173
http://dx.doi.org/10.7759/cureus.16573
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