title: McKusik Kaufman syndrome.
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.
authors.affiliation: Department of Paediatrics, Foundation University Medical College, Fauji Foundation Hospital, Rawalpindi, Pakistan. faisalrazamalik@hotmail.com
authors.forename: Faisal Raza
authors.initials: FR
authors.lastname: Malik
authors.affiliation: Department of Paediatrics, Foundation University Medical College, Fauji Foundation Hospital, Rawalpindi, Pakistan.
authors.forename: Awais
authors.initials: A
authors.lastname: Tahir
authors.affiliation: Department of Paediatrics, Foundation University Medical College, Fauji Foundation Hospital, Rawalpindi, Pakistan.
authors.forename: Huma
authors.initials: H
authors.lastname: Bashir
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D003937:Diagnosis, Differential; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006801:Humans; D052202:Hydrocolpos / Q000175:diagnosis*; D008297:Male; D010154:Pakistan; D017689:Polydactyly / Q000175:diagnosis*; D014591:Uterine Diseases / Q000175:diagnosis*