alexa The McKusick-Kaufman hydrometrocolpos-polydactyly syndrome: A rare case report
Reproductive Medicine

Reproductive Medicine

Clinics in Mother and Child Health

Author(s): Swapnil P Yewalkar, Vikas K Yadav, GJ Khadse

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A combination of hydrometrocolpos, polydactyly, and cardiac anomlies is the cardinal feature of McKusick–Kaufman syndrome. Neonatal hydrometrocolpos is rare Mullerian duct anomaly caused by obstruction of the vagina. There is an accumulation of mucus secretions proximal to the obstruction. The secretions are secondary to intrauterine and postnatal stimulation of uterine and cervical glands by maternal estrogens. Here, we report a case of 1-day-old neonate who presented with abdominal distension. Ultrasound and computed tomography findings revealed a large abdominopelvic cystic mass posterior to the urinary bladder. Other associated findings were polydactyly and bilateral hydronephosis. Laparotomy confirmed the findings of hydrometrocolpos caused by stenosis/atresia of lower vagina.

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This article was published in Indian J Radiol Imaging and referenced in Clinics in Mother and Child Health

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