Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings.
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.
Chong
Karen
K
The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
Keating
Sarah
S
Hurst
Stephanie
S
Summers
Anne
A
Berger
Howard
H
Seaward
Gareth
G
Martin
Nicole
N
Friedberg
Tami
T
Chitayat
David
D
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
D018797:Cell Cycle Proteins; C487465:NIPBL protein, human; D011506:Proteins; D011266:Pregnancy-Associated Plasma Protein-A