title: Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings.
abstract: Cornelia de Lange Syndrome (CdLS) is a multisystem disorder characterized by somatic defects and mental retardation. Prenatal diagnosis of this severe condition is difficult in view of the non-specific ultrasound abnormalities. We report three cases with prenatally suspected CdLS based on the ultrasound findings as well as low PAPP-A detected on first trimester screening in one case, and the results of the autopsy and the NIPBL gene mutation analysis.
authors.affiliation: The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Karen
authors.initials: K
authors.lastname: Chong
authors.forename: Sarah
authors.initials: S
authors.lastname: Keating
authors.forename: Stephanie
authors.initials: S
authors.lastname: Hurst
authors.forename: Anne
authors.initials: A
authors.lastname: Summers
authors.forename: Howard
authors.initials: H
authors.lastname: Berger
authors.forename: Gareth
authors.initials: G
authors.lastname: Seaward
authors.forename: Nicole
authors.initials: N
authors.lastname: Martin
authors.forename: Tami
authors.initials: T
authors.lastname: Friedberg
authors.forename: David
authors.initials: D
authors.lastname: Chitayat
mesh_terms: D000328:Adult; D001344:Autopsy; D018797:Cell Cycle Proteins; D003635:De Lange Syndrome / Q000175:diagnosis* / Q000473:pathology*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D011247:Pregnancy; D011266:Pregnancy-Associated Plasma Protein-A / Q000032:analysis / Q000235:genetics; D011506:Proteins / Q000032:analysis / Q000235:genetics; D016216:Ultrasonography, Prenatal; D055815:Young Adult
chemical_list: D018797:Cell Cycle Proteins; C487465:NIPBL protein, human; D011506:Proteins; D011266:Pregnancy-Associated Plasma Protein-A