Unusual presentation of McKusick-Kaufman syndrome in a female Bedouin Arab baby.
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.
Kawar
B
B
Department of Pediatric Surgery, Ha'Emek Medical Center, Afula, Israel. kbassem@zahav.net.il
Sakran
W
W
Chervinsky
L
L
Siplovich
L
L
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