Open AccessA Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the EDNRB Gene
Author(s) -
Trassanee Chatmethakul,
Rozaleen Phaltas,
Gwen Minzes,
José Enrique Martínez,
Ramesh M Bhat
Publication year - 2019
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0038-1677551
Subject(s) - craniofacial , waardenburg syndrome , medicine , craniofacial abnormality , hirschsprung's disease , rare disease , intestinal malrotation , deletion syndrome , disease , pathology , gene , genetics , gastroenterology , biology , phenotype
We report a rare co-occurrence of intestinal malrotation and Hirschsprung's disease (HSCR) in a male neonate with a large 38.8 Mb interstitial deletion of chromosome 13 extending from q21.31 to q33.1 including the EDNRB gene, who presented with craniofacial dysmorphic features and central nervous system malformations. The loss of EDNRB gene in addition to bilateral hearing loss and HSCR suggested an additional diagnosis of Waardenburg-Shah's syndrome. This case highlights the fact that prior knowledge of this rare association in infants with 13q deletion syndrome would enable early diagnosis and prompt interventions to prevent gastrointestinal complications.