Fetal hydrometrocolpos with pre‐axial mirror polydactyly as a new variant of McKusick‐Kaufman syndrome. Issue 1 (14th June 2020)

• Record Type: Journal Article
• Authors: Traisrisilp, Kuntharee; Nunthapiwat, Sujinun; Luewan, Suchaya; Tongsong, Theera
• Is Part Of: Journal of clinical ultrasound. Volume 49:Issue 1(2021)
• Page Start: 62
• Page End: 65
• Publication Date: 2020-06-14
• Subjects: ambiguous genitalia -- Bardet‐Biedl syndrome -- hydrometrocolpos -- Mckusick‐Kaufman syndrome -- polydactyly -- ultrasonography; Ultrasonics in medicine -- Periodicals; 616.07543
• DOI: 10.1002/jcu.22882
• Languages: English
• ISSNs: 0091-2751

Abstract

Abstract: This report describes a variant of McKusick‐Kaufman syndrome presenting with a large fetal abdominal cyst of hydrometrocolpos at 37 weeks of gestation. The diagnosis was based on the ultrasound findings of a large homogeneous hypoechoic cyst (diameter of >10 cm) with incomplete septum, thickened wall, superiorly connecting to the dilated uterus, consistent with hydrometrocolpos. Additionally, pre‐axial mirror polydactyly of the left foot was suspected. Postnatal examination/work‐up confirmed the prenatal findings. This is the first report of prenatal diagnosis of hydrometrocolpos with complex polydactyly of mirror image pre‐axial duplications containing nine toes instead of six‐toe postaxial polydactyly.