title: Case Report: Fetal Bilateral Diaphragmatic Agenesis, Ectopic Liver and Abnormal Pancreas.
abstract: Congenital bilateral diaphragm agenesis is a very rare condition. We describe limited (abdomen only) autopsy findings of a case of bilateral diaphragm agenesis in a 27-week male fetus with unusual findings of fibrosis of the pancreatic head and ectopic liver nodules in a mass at the upper abdomen that may represent a possible diaphragm anlage. We have correlated our observations with data from experimental and embryological studies to suggest possible mechanisms for the malformations that were present and their implications for our understanding of pancreas, liver and diaphragm development in the human fetus.
authors.affiliation: Department of Anatomical Pathology, SEALS, Prince of Wales Hospital, Sydney, Australia (Formerly: Department of Anatomical Pathology, Royal Brisbane and Women's Hospital , Brisbane , Australia ).
authors.forename: Christine K C
authors.initials: CK
authors.lastname: Loo
authors.forename: Tamara N
authors.initials: TN
authors.lastname: Pereira
authors.forename: Grant A
authors.initials: GA
authors.lastname: Ramm
mesh_terms: D034841:Abdominal Cavity / Q000196:embryology; D000015:Abnormalities, Multiple / Q000196:embryology* / Q000473:pathology; D000328:Adult; D002828:Choristoma / Q000196:embryology* / Q000473:pathology; D003964:Diaphragm / Q000002:abnormalities* / Q000196:embryology / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D005355:Fibrosis; D005865:Gestational Age; D055166:Hepatic Stellate Cells / Q000737:chemistry / Q000473:pathology; D006548:Hernia, Diaphragmatic / Q000196:embryology* / Q000473:pathology; D006801:Humans; D007234:Infant, Premature; D008099:Liver / Q000196:embryology / Q000473:pathology; D008297:Male; D010179:Pancreas / Q000002:abnormalities* / Q000196:embryology / Q000473:pathology; D006831:Polyhydramnios / Q000209:etiology; D011247:Pregnancy; D013909:Thorax / Q000196:embryology
keywords: diaphragm agenesis; hepatic stellate cell; human fetus