title: Our experience with McKusick-Kaufman syndrome patients.
abstract: OBJECTIVE
  McKusick-Kaufman syndrome (MKKS) is a rare autosomal recessive disorder. Less than one hundred cases have been reported in the English literature to date. We report three different aged children with a large hydrometrocolpos and postaxial polydactyl.
  
  
  RESULTS
  These children had various degrees of associated renal disorders. Bardet Biedl syndrome (BBS) is characterized by retinal dystrophy or retinitis pigmentosa, postaxial polydactyl, obesity, nephropathy, mental disturbances or mental retardation. Typically MKKS is diagnosed in young children especially in neonates whereas the diagnosis of BBS is delayed until the teenage years.
  
  
  CONCLUSIONS
  All MKKS cases should be re-evaluated for Retinitis pigmentosa, other signs of BBS and for disorders that may worsen with time (Ref. 12).
authors.affiliation: Department of Pediatric Surgery, Faculty ofMedicine, Gazi University, Ankara, Turkey.
authors.forename: K
authors.initials: K
authors.lastname: Sonmez
authors.forename: Z
authors.initials: Z
authors.lastname: Turkyilmaz
authors.forename: R
authors.initials: R
authors.lastname: Karabulut
authors.forename: O
authors.initials: O
authors.lastname: Turan
authors.forename: Esra E
authors.initials: EE
authors.lastname: Onal
authors.forename: D
authors.initials: D
authors.lastname: Aslan
authors.forename: A C
authors.initials: AC
authors.lastname: Basaklar
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D017689:Polydactyly / Q000235:genetics; D013577:Syndrome