scholarly journals Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases

2012 ◽  
Vol 15 (5) ◽  
pp. 338-344 ◽  
Author(s):  
Elizabeth J. Leslie ◽  
Jennifer Standley ◽  
John Compton ◽  
Sherri Bale ◽  
Brian C. Schutte ◽  
...  
Keyword(s):  
Comparative Analysis ◽  
Van Der Woude Syndrome ◽  
Whole Exome ◽  
Popliteal Pterygium Syndrome ◽  
Popliteal Pterygium

Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling

2009 ◽  
Vol 18 (4) ◽  
pp. 225-227 ◽  
Author(s):  
Arjan C. Houweling ◽  
Johan J.P. Gille ◽  
Jacques A. Baart ◽  
Johanna M. van Hagen ◽  
Augusta M. Lachmeijer
Keyword(s):  
Genetic Counseling ◽  
Van Der Woude Syndrome ◽  
Phenotypic Manifestation ◽  
Popliteal Pterygium Syndrome ◽  
Popliteal Pterygium

scholarly journals Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub‐Saharan Africa

2014 ◽  
Vol 2 (3) ◽  
pp. 254-260 ◽  
Author(s):  
Azeez Butali ◽  
Peter A. Mossey ◽  
Wasiu L. Adeyemo ◽  
Mekonen A. Eshete ◽  
LauRen A. Gaines ◽  
...  
Keyword(s):  
Sub Saharan Africa ◽  
Van Der Woude Syndrome ◽  
Popliteal Pterygium Syndrome ◽  
Sub Saharan ◽  
Popliteal Pterygium

scholarly journals Hemiscrotal agenesis with complete testicular descent in Van der Woude syndrome: a new phenotypic feature

2019 ◽  
Vol 12 (9) ◽  
pp. e229938 ◽  
Author(s):  
Dilharan D Eliezer ◽  
Himanshu Goel ◽  
Virginia M Turner ◽  
Aniruddh Deshpande
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Treatment Options ◽  
Testicular Descent ◽  
Van Der Woude Syndrome ◽  
Phenotypic Feature ◽  
Midline Defects ◽  
Popliteal Pterygium Syndrome ◽  
Testicular Thermoregulation ◽  
Popliteal Pterygium

Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) spectrum are due to genetic variants in the IRF6 which phenotypically has been known to manifest with midline defects such as cleft lip and palate in VWS and additional nail, limb and genital anomalies in PPS. We report a case of VWS with the previously unrecognised phenotypic feature of hemiscrotal agenesis. While bifid scrotum has been reported in the more severe PPS, neither VWS nor PPS have previously noted hemiscrotal agenesis as part of the phenotypic picture. Hemiscrotal agenesis without evidence of any genetic anomaly has only been reported four times in the literature to date with two of these being accompanied by complete testicular descent. Treatment options include topical androgen application and/or scrotoplasty to allow for adequate testicular thermoregulation and development to occur.

Popliteal pterygium syndrome with unusual features

2004 ◽  
Vol 71 (3) ◽  
pp. 269-270 ◽  
Author(s):  
C. K. Sasidharan ◽  
K. V. Ravi
Keyword(s):  
Popliteal Pterygium Syndrome ◽  
Popliteal Pterygium

Endoscopic Release of Intraoral Synechiae in Popliteal Pterygium Syndrome

2002 ◽  
Vol 49 (5) ◽  
pp. 550-552 ◽  
Author(s):  
Fabrizio Schonauer ◽  
Ivan La Rusca ◽  
Desiree Sordino ◽  
Alessandro Settimi ◽  
Guido Molea
Keyword(s):  
Endoscopic Release ◽  
Popliteal Pterygium Syndrome ◽  
Popliteal Pterygium

Popliteal pterygium syndrome

1987 ◽  
Vol 63 (1) ◽  
pp. 17-20 ◽  
Author(s):  
Barry Steinberg ◽  
Vernon Saunders
Keyword(s):  
Popliteal Pterygium Syndrome ◽  
Popliteal Pterygium
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