Familial Apple Peel Jejunal Atresia with Helical Umbilical Cord Ulcerations in Three Consecutive Pregnancies. (January 2016)

• Record Type: Journal Article
• Authors: Jaiman, Sunil; Gundabattula, Sirisha Rao; Ratha, Chinmayee
• Is Part Of: Pediatric and developmental pathology. Volume 19:Number 1(2016)
• Page Start: 51
• Page End: 55
• Publication Date: 2016-01
• Subjects: apple peel atresia -- familial occurrence -- fetal demise -- intestinal atresia -- umbilical cord ulcer; Pediatric pathology -- Periodicals; Children -- Diseases -- Periodicals; Diagnosis, Laboratory -- Periodicals; Abnormalities, Human -- Periodicals; Child development -- Periodicals; Pediatrics -- Periodicals; 616.07
• DOI: 10.2350/15-04-1623-CR.1
• Languages: English
• ISSNs: 1093-5266

Abstract

Apple peel deformity is a rare form of upper intestinal atresia of unknown etiology. Umbilical cord ulcers can occur secondary to reflux of gastric juice and bile as a result of the atresia and can cause lethal intrauterine hemorrhage. The authors report 3 instances of congenital apple peel jejunal atresia with helical umbilical cord ulcers afflicting all female offspring in consecutive pregnancies in a single nonconsanguineous family. There was no hemorrhage from the cord ulcers, but all 3 pregnancies resulted in perinatal death. Although familial occurrence is known, our case series is probably the 1st from the Indian subcontinent and warrants further research into the genetic mechanisms and possible ethnic differences of congenital upper intestinal atresia. The causation of sudden fetal demise in the absence of antecedent cord hemorrhage remains elusive.