Cover Image

MCKUSICK KAUFMAN SYNDROME

HEMAMALINI B .

Abstract


McKusick Kaufman syndrome is an Autosomal recessive syndrome characterized by post axial  polydactyly , hydrometrocolpos and congenital heart defects. We report a case of a five months old girl child second born of non               consanguineous marriage who presented with complaints  of abdominal distension and decreased urine output. She had syndactyly and polydactyly of all four limbs, USG and CT abdomen showed large midline cystic lesion measuring 1086 cm, ECHO findings of common AV valve with moderate    pulmonary hypertension, Laparotomy was done. Per  operative findings were pyometrocolpos, vaginal atresia,        persistent urogenital sinus and normal ovaries.

 


Full Text:

PDF

References


Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome: A literature review Anne M. Slavotinek* and Leslie G. Biesecker. American Journal of Medical Genetics. Volume 95, Issue 3, pages 208–215, 27 November 2000.

The McKusick-Kaufman syndrome:Recessively inherited vaginal atresia, hydrometrocolpos, uterovaginal duplications, anorectal anomalies, postaxial polydactyly, and congenital heart disease. M.D. Meinhard Robinow M>D> Anthony shaw. THE JOURNAL OF PEDIATRICS.May 1979 Volume 94, Issue 5, Pages 776-778

Schaap C, de Die-Smulders CE, Kuijten RH Fryns JP.Mckusick-Kaufman syndrome:the diagnostic challenge of abdominal distention in the neonatal period. European journal of pediatrics. 1992 Aug 1;151(8):583-5

Hydrometrocolpos-Sy KM.MCkusick-Kaufman syndrome. Anasthesie Bei Seltenen Erkrankungen.2010 Dec 7:164

Nelson textbook of pediatrics 19th edition Bardet-Biedl syndrome

David A,Bitoun P,Lambert JC, Nivelon A, Vigneron J, Veloes A. Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and Mckusick-Kaufman syndromes.Journal of medical genetics.1999 Aug 1;36(8) 599-603


Refbacks

  • There are currently no refbacks.


Creative Commons License
This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.

An Initiative of The Tamil Nadu Dr MGR Medical University