Literature DB >> 24397080

McKusik Kaufman syndrome.

Faisal Raza Malik1, Awais Tahir2, Huma Bashir2.   

Abstract

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

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Year:  2012        PMID: 24397080

Source DB:  PubMed          Journal:  J Ayub Med Coll Abbottabad        ISSN: 1025-9589


  1 in total

1.  A case of McKusick-Kaufman syndrome with perinatal diagnosis: Case report and literature review.

Authors:  Irfan Ullah; Shahzad Rauf; Sajjad Ali; Kiran Shafiq Khan; Tayyaba Zahid; Jahanzeb Malik; Rifayat Ullah Afridi; Muhammad Sohaib Asghar
Journal:  Ann Med Surg (Lond)       Date:  2022-06-06
  1 in total

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