title: Familial Apple Peel Jejunal Atresia with Helical Umbilical Cord Ulcerations in Three Consecutive Pregnancies.
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.
authors.affiliation: 1 Department of Anatomic and Perinatal Pathology & Cytology, Fernandez Hospital Unit 3, Plot 769, Road No. 44, Jubilee Hills, Hyderabad-500033, India.
authors.forename: Sunil
authors.initials: S
authors.lastname: Jaiman
authors.affiliation: 2 Department of Gynaecology, Fernandez Hospital Unit 3, Plot 769, Road No. 44, Jubilee Hills, Hyderabad 500033, India.
authors.forename: Sirisha Rao
authors.initials: SR
authors.lastname: Gundabattula
authors.affiliation: 3 Department of Fetal Medicine, Rainbow Hospital, 22, Road No. 4, Karvy Lanes, Banjara Hills, Hyderabad-500034, India.
authors.forename: Chinmayee
authors.initials: C
authors.lastname: Ratha
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D001344:Autopsy; D001706:Biopsy; D002423:Cause of Death; D017809:Fatal Outcome; D005260:Female; D005313:Fetal Death; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D040941:Heredity; D006801:Humans; D007194:India; D007409:Intestinal Atresia / Q000235:genetics* / Q000473:pathology*; D007583:Jejunum / Q000002:abnormalities*; D010375:Pedigree; D010641:Phenotype; D010920:Placenta / Q000002:abnormalities*; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D012307:Risk Factors; D035781:Siblings; D014456:Ulcer / Q000235:genetics* / Q000473:pathology*; D014470:Umbilical Cord / Q000002:abnormalities* / Q000473:pathology
keywords: apple peel atresia; familial occurrence; fetal demise; intestinal atresia; umbilical cord ulcer