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Fetal hydrometrocolpos with pre‐axial mirror polydactyly as a new variant of McKusick‐Kaufman syndrome
Author(s) -
Traisrisilp Kuntharee,
Nunthapiwat Sujinun,
Luewan Suchaya,
Tongsong Theera
Publication year - 2021
Publication title -
journal of clinical ultrasound
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.272
H-Index - 61
eISSN - 1097-0096
pISSN - 0091-2751
DOI - 10.1002/jcu.22882
Subject(s) - polydactyly , medicine , anatomy , prenatal diagnosis , fetus , uterus , cyst , pregnancy , surgery , biology , genetics
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.