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Journal: University Journal of Surgery and Surgical Specialities (Vol.5, No. 1)

Publication Date:

Authors : ;

Page : 44-45

Keywords : Polydactyly; heart defects; pyometrocolpos; Bardet biedl syndrome; MKKS.;

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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.

Last modified: 2019-02-06 15:20:53