PT  - JOURNAL ARTICLE
AU  - Dilharan D Eliezer
AU  - Himanshu Goel
AU  - Virginia M Turner
AU  - Aniruddh Deshpande
TI  - Hemiscrotal agenesis with complete testicular descent in Van der Woude syndrome: a new phenotypic feature
AID  - 10.1136/bcr-2019-229938
DP  - 2019 Sep 01
TA  - BMJ Case Reports
PG  - e229938
VI  - 12
IP  - 9
4099  - http://casereports.bmj.com/content/12/9/e229938.short
4100  - http://casereports.bmj.com/content/12/9/e229938.full
SO  - BMJ Case Reports2019 Sep 01; 12
AB  - 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.