A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the EDNRB Gene

Abstract

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.

Microarray analysis in fetuses with duodenal obstruction: It is not just trisomy 21

“…Three cases in our study did not have postnatal diagnostic evaluation, by which duodenal atresia could be confirmed. Combined with the three cases of this study and previous studies, 24,26,33‐35 these results identify a further expansion of the prenatal presentation of 13q deletion.…”

“…One study has suggested abnormalities in neural crest cell migration, in conjunction with vascular disruption, as possible pathogenic mechanisms of duodenal atresia 24 . The co‐occurrence of HD and intestinal obstruction, in association with a partial deletion of chromosome 13q, has been described in previous case reports 24,33‐35 . Three cases in our study did not have postnatal diagnostic evaluation, by which duodenal atresia could be confirmed.…”

“…24 The co-occurrence of HD and intestinal obstruction, in association with a partial deletion of chromosome 13q, has been described in previous case reports. 24,[33][34][35] Three cases in our study did not have postnatal diagnostic evaluation, by which duodenal atresia could be confirmed. Combined with the three cases of this study and previous studies, 24,26,[33][34][35] these results identify a further expansion of the prenatal presentation of 13q deletion.…”

Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature

“…Previous reports suggested that eye malformation might be associated with the EFNB2 gene [4], and deletion of the 13q32 region [2]. Recently, the 13q33.3-q34 deletion (110,302,002-11,394,979, GPCh37) has been shown to be associated with microphthalmia or anophthalmia with/without coloboma in 15 patients [16], and 13 genes were encoded in the region: IRS2 GPC5 ZIC2 EFNB2 finger anomaly [5,11] Phenotype of the present patient VACTER/VACTEL association [6][7][8]10] hearing loss [23][24][25] Dandy Walker malformation [4,[12][13][14][15] Candidate genes [113862507-113921422] (GpCh37) [7]. In our review of these genes, IRS2 was reported to be involved in retina function [17,18].…”

“…It has been reported that EFNB2 haploinsufficiency [23][24][25] or 13q32 deletion [15], is involved in hearing loss, although deafness has been reported in the patients with deletions of the 13q13.1-q14.3 and 13q12.3-q21.1 [26]. Furthermore, EFNB2 is involved in the morphogenesis of the endolymphatic sac and duct epithelia in the mouse inner ear, which requires normal hearing [27].…”