id author title date pages extension mime words sentences flesch summary cache txt work_arxyum7x5fc5flatkrvorenv3i Erica R. Gross Skip segment Hirschsprung disease and Waardenburg syndrome 2015 3 .pdf application/pdf 1852 219 54 b Department of Pediatrics, Division of Medical Genetics, Children's Hospital of Wisconsin, Milwaukee, WI, USA Skip segment Hirschsprung disease describes a segment of ganglionated bowel between two segments of skip segment Hirschsprung disease in a neonate with a family history of Waardenburg syndrome and the "transition zone." In this case report, we describe an atypical presentation of neonatal bowel obstruction and a rare case of skip total colonic HD and the patient's sister was treated for rectosigmoid disease (Fig. 1). contrast study was performed, during which the colon was perforated. Waardenburg-Shah syndrome) which has been molecularly associated with EDNRB, Endothelin 3 (EDN3) and SOX10 [1]. No cases reported skip segment aganglionosis. Skip segment Hirschsprung's disease: a systematic review. Hirschsprung's disease: genetic and functional associations of Down's and Waardenburg syndromes. Skip segment Hirschsprung disease and Waardenburg syndrome Skip segment Hirschsprung disease and Waardenburg syndrome Skip segment Hirschsprung disease and Waardenburg syndrome ./cache/work_arxyum7x5fc5flatkrvorenv3i.pdf ./txt/work_arxyum7x5fc5flatkrvorenv3i.txt