title: The McKusick-Kaufman hydrometrocolpos-polydactyly syndrome--a case report.
abstract: Hydrometrocolpos is a rare congenital anomaly and serious life threatening condition in the newborn infant due to its long-term compression sequelae and associated congenital anomalies. Prenatal diagnosis of hydrometrocolpos by sonogram allows appropriate management during the prenatal and neonatal period. The combination of hydrometrocolpos and polydactyly is the cardinal hallmark feature of McKusick-Kaufman Syndrome. We present a case of congenital hydrometrocolpos due to vaginal atresia combined with polydactyly of both feet, mild atrial septum defect, bilateral hydronephrosis, fetal ascites and polyhydramnios. Pathogenesis and treatment of hydrometrocolpos and its associated congenital anomalies are discussed.
authors.affiliation: Department of Obstetrics & Gynecology, Chang Gung Memrial Hospital, Kaohsiung, Taiwan, R.O.C.
authors.forename: Y R
authors.initials: YR
authors.lastname: Hsu
authors.forename: J H
authors.initials: JH
authors.lastname: Chuang
authors.forename: C B
authors.initials: CB
authors.lastname: Huang
authors.forename: C C
authors.initials: CC
authors.lastname: Changchien
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D005260:Female; D006801:Humans; D017689:Polydactyly / Q000175:diagnosis*; D011247:Pregnancy; D013577:Syndrome; D014599:Uterus / Q000002:abnormalities*; D014621:Vagina / Q000002:abnormalities*