title: Unusual presentation of McKusick-Kaufman syndrome in a female Bedouin Arab baby.
abstract: McKusick-Kaufman syndrome is a rare, autosomal, recessive disorder characterized by hydrometrocolpos, post-axial polydactyly, and congenital heart disease. Less than one hundred cases have been reported in the English literature to date, mainly in the Amish population; sporadic cases have also been described. We present a case of an Arab Bedouin girl who presented with features resembling this syndrome.
authors.affiliation: Department of Pediatric Surgery, Ha'Emek Medical Center, Afula, Israel. kbassem@zahav.net.il
authors.forename: B
authors.initials: B
authors.lastname: Kawar
authors.forename: W
authors.initials: W
authors.lastname: Sakran
authors.forename: L
authors.initials: L
authors.lastname: Chervinsky
authors.forename: L
authors.initials: L
authors.lastname: Siplovich
mesh_terms: D018912:Arabs; D005260:Female; D006801:Humans; D052202:Hydrocolpos / Q000601:surgery; D006924:Hymen / Q000002:abnormalities*; D007223:Infant; D017689:Polydactyly / Q000235:genetics; D013577:Syndrome; D014591:Uterine Diseases / Q000601:surgery