Mckusick Kaufman Syndrome Accompanied by Congenital Laryngomalacia, Intestinal Malrotation and Hypothalamic Hamartom

McKusick-Kaufman syndrome is a rare syndrome inherited in an autosomal recessive pattern with a phenotypic triad comprising hydrometrocolpos, postaxial polydactyly and congenital cardiac disease. The syndrome is caused by mutations in the MKKS gene mapped onto chromosome 20p12. Diagnosis of this syndrome is based on clinical and imaging findings. In our paper, we have presented the first McKusick-Kaufman syndrome patient accompanied by congenital laryngomalacia, intestinal malrotation and hypothalamic hamartoma as well as postaxial polydactyly, hydrometrocolpos in the neonatal period. Case Report Mckusick Kaufman Syndrome Accompanied by Congenital Laryngomalacia, Intestinal Malrotation and Hypothalamic Hamartom Mustafa Koplay1*, İlhan Çiftçi2, Ali Annagür3, Emine Uysal1, Mesut Sivri1, Cengiz Erol1 and Ayhan Taştekin3 1Department of Radiology, Medical Faculty of Selcuk University, Turkey 2Department of Pediatric Surgery, Medical Faculty of Selcuk University, Turkey 3Department of Neonatology, Medical Faculty of Selcuk University, Turkey