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CC BY-NC-ND 4.0 · Indian J Radiol Imaging 2013; 23(02): 183-185
DOI: 10.4103/0971-3026.116573
ORIGINAL ARTICLE

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

Swapnil P Yewalkar
Department of Radiodiagnosis, B.J.M.C. and S.G.H., Pune, Maharashtra
,
Vikas K Yadav
Department of Radiodiagnosis, B.J.M.C. and S.G.H., Pune, Maharashtra
,
G J Khadse
Department of Radiodiagnosis, B.J.M.C. and S.G.H., Pune, Maharashtra
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Abstract

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.

Keywords

Hydrometrocolpos - McKusick–Kaufman syndrome - polydactyly - ultrasonography - Computed tomography


Publication History

Article published online:
04 October 2021

© 2013. Indian Radiological Association. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

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  • References

  • 1 Mckusick VA, Bauer RL, Koop CE, Scott RB. Hydrometrocolpos as a simply inherited malformation. JAMA 1964;189:813-6.
  • 2 Dungy CI, Aptekar RG, Cann HM. Hereditary hydrometrocolpos with polydactyly in infancy. Pediatrics 1971;47:138-41.
  • 3 Kaufman RL, Hartmann HF, McAlister WH. Family studies of congenital heart disease II: A syndrome of hydrometrocolpos, postaxial polydactyly and congenital heart disease. Birth Defects 1972;8:85-7.
  • 4 David A, Bitoun P, Lacombe D, Lambert JC, Nivelon A, Vigneron J, et al. Hydrometrocolpos and polydactyly: A common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. J Med Genet 1999;36:599-603.
  • 5 Stone DL, Slavotinek A, Bouffard GG, Banerjee-Basu S, Baxevanis AD, Barr M, et al. Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat Genet 2000;25:79-82.
  • 6 Rosenberg HK, Chaudhry H. Pediatric pelvic sonography. In: Rumack CM, editor. Diagnostic Ultrasound. 4th ed. Philadelphia: Elsevier Mosby Publishers; 2011. p. 1936-8.
  • 7 Rock JA. Anomalous development of the vagina. Semin Reprod Endocrinol 1986;4:13-31.
  • 8 Blask AR, Sanders RC, Rock JA. Obstructed uterovaginal anomalies: Demonstration with sonography. Part II. Teenagers. Radiology 1991;179:84-8.
  • 9 Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, et al. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet 2000;24:283-6.
  • 10 Al-Khenaizan S, Al-Sannaa N, Teebi AS. What syndrome is this? Chondroectodermal dysplasia: The Ellis-van Creveld syndrome. Pediatr Dermatol 2001;18:68-70.
  • 11 Unsinn KM, Neu N, Krejci A, Posch A, Menardi G, Gassner I. Pallister-Hall syndrome and McKusick-Kaufmann syndrome: One entity? J Med Genet 1995;32:125-8.