MCKUSIK KAUFMAN SYNDROME

Authors

  • Faisal Raza Malik
  • Awais Tahir
  • Huma Bashir

Abstract

A 12-years-old male child presented with polydactyly and syndactyly of hands, hypospadias, ANDundescended testes. He was a known case of Tetrology of Fallot. One important differential in our casewas Bardet-Biedl syndrome, but it was ruled out due to lack of evidence of central obesity, mentalretardation and retinitis pigmentosa. At this time, there is no molecular testing available to distinguishthese two syndromes.Keywords: Mckusik Kaufman syndrome, polydactyly, syndactyly, hypospadias

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Published

2012-06-01