scholarly journals P44.17: Second trimester prenatal diagnosis of Cornelia de Lange Syndrome, identification of limb abnormalites with a sinister cause

2007 ◽  
Vol 30 (4) ◽  
pp. 622-622
Author(s):  
T. F. R. Homfray ◽  
A. Bhide ◽  
I. Jeffery ◽  
S. Bower
Keyword(s):  
Prenatal Diagnosis ◽  
Cornelia De Lange Syndrome ◽  
Second Trimester ◽  
Cornelia De Lange

scholarly journals A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation

Diagnostics ◽  
2021 ◽  
Vol 11 (1) ◽  
pp. 142
Author(s):  
Anca Maria Panaitescu ◽  
Simona Duta ◽  
Nicolae Gica ◽  
Radu Botezatu ◽  
Florina Nedelea ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Cornelia De Lange Syndrome ◽  
Facial Features ◽  
Genetic Condition ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Limb Reduction ◽  
Ultrasound Findings ◽  
Prenatal Management ◽  
Cornelia De Lange

Cornelia de Lange syndrome (CDLS) is caused by pathogenic variants in genes which are structural or regulatory components of the cohesin complex. The classical Cornelia de Lange (CDLS) phenotype is characterized by distinctive facial features, growth retardation, upper limb reduction defects, hirsutism, and developmental delay. Non-classical phenotypes make this condition heterogeneous. Although CDLS is a heterogeneous clinical and genetic condition, clear diagnostic criteria have been described by specialist consensus. Many of these criteria refer to features that can be seen on prenatal ultrasound. The aim of this paper is twofold: to present the ultrasound findings in fetuses affected by CDLS syndrome; to discuss the recent advances and the limitations in the ultrasound and genetic prenatal diagnosis of CDLS. Our review aims to offer, apart from the data needed to understand the genetics and the prenatal presentation of the disease, a joint perspective of the two specialists involved in the prenatal management of this pathology: the fetal medicine specialist and the geneticist. To better illustrate the data presented, we also include a representative clinical case.

Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel NIPBL Pathogenic Variant

2019 ◽  
Vol 22 (5) ◽  
pp. 475-479 ◽  
Author(s):  
Jennifer Hague ◽  
Philip Twiss ◽  
Zoe Mead ◽  
Soo-Mi Park
Keyword(s):  
Clinical Diagnosis ◽  
Upper Limb ◽  
Growth Retardation ◽  
Postmortem Examination ◽  
Pathogenic Variant ◽  
Cornelia De Lange Syndrome ◽  
Molecular Testing ◽  
Intrauterine Death ◽  
Second Trimester ◽  
Cornelia De Lange

Classical Cornelia de Lange syndrome (CdLS) is a rare genetic disorder which is associated with distinctive facial features, growth retardation, significant intellectual disability and global developmental delay, hirsutism, and upper-limb reduction defects. Classical CdLS is associated with pathogenic variants in NIPBL. We present a clinical diagnosis of classical CdLS made in a second trimester male fetus with advanced maceration who had undergone intrauterine death at 15 + 6 weeks gestation. The diagnosis was suspected after multiple congenital anomalies were identified on fetal postmortem examination. These included intrauterine growth retardation, upper limb anomalies, ventricular septal defect and diaphragmatic hernia, and skeletal and genitourinary abnormalities. Related prenatal screening findings included a raised nuchal translucency and low maternal serum pregnancy-associated plasma protein-A. Targeted molecular sequencing of genes associated with CdLS identified a novel de novo frameshift pathogenic variant in NIPBL, which confirmed the diagnosis. This report describes our case and reviews the current literature on prenatal diagnosis of CdLS. In summary, we demonstrate that clinical diagnosis of CdLS in a second trimester fetus, through postmortem examination findings, is possible, with confirmation through molecular testing.

scholarly journals OP06.09: Cornelia de Lange syndrome amenable to early prenatal diagnosis? Lessons from 106 affected fetuses

2019 ◽  
Vol 54 (S1) ◽  
pp. 104-104
Author(s):  
J. Weichert ◽  
M.A. Gembicki ◽  
D.R. Hartge ◽  
C. Eckmann‐Scholz ◽  
M. Czugalinski ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Cornelia De Lange Syndrome ◽  
Cornelia De Lange

scholarly journals A Case of Cornelia de Lange Syndrome: Difficulty in Prenatal Diagnosis

2019 ◽  
Vol 2019 ◽  
pp. 1-3
Author(s):  
Tadatsugu Kinjo ◽  
Keiko Mekaru ◽  
Miyuki Nakada ◽  
Hayase Nitta ◽  
Hitoshi Masamoto ◽  
...  
Keyword(s):  
Body Weight ◽  
Prenatal Diagnosis ◽  
Ultrasound Examination ◽  
Fetal Mri ◽  
Rare Condition ◽  
Japanese Woman ◽  
Cornelia De Lange Syndrome ◽  
Intrauterine Fetal Death ◽  
Old Japanese ◽  
Cornelia De Lange

We report a case of Cornelia de Lange syndrome (CdLS) where prenatal diagnosis was not made even with major anomaly. A 33-year-old Japanese woman was referred to our institution at 23 weeks of gestation because of fetal forearm defect. Ultrasound examination revealed short forearms and short humeri and femurs (–2.1 SD). The fetal estimated body weight was 450 g (–1.3 SD). Fetal MRI at 26 weeks of gestation revealed short forearms and hypoplasty of hand fingers. Fetal growth restriction became evident thereafter, leading to intrauterine fetal death occurring at 29 weeks of gestation. A stillbirth baby was of 798 g in body weight and 33.0 cm in length. External examination showed a low hairline, synophrys, low-set ear, hypertrichosis, and smooth long philtrum with thin lips. The neck appeared short and broad. Finally, CdLS was diagnosed. The prenatal diagnosis might be possible as the arm findings were totally characteristic in a small fetus, regardless of whether an overhanging upper lip was identified. Because CdLS is a rare condition, it is important to consider its possibility as a part of differential diagnosis.

Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies

1999 ◽  
Vol 19 (8) ◽  
pp. 706-710 ◽  
Author(s):  
David A. Aitken ◽  
Maggie Ireland ◽  
Esther Berry ◽  
Jennifer A. Crossley ◽  
James N. Macri ◽  
...  
Keyword(s):  
Plasma Protein ◽  
Protein A ◽  
Cornelia De Lange Syndrome ◽  
Second Trimester ◽  
Trimester Pregnancy ◽  
Second Trimester Pregnancy ◽  
Cornelia De Lange

Ultrasound detection of eyelashes: a clue for prenatal diagnosis of Cornelia de Lange syndrome

2013 ◽  
Vol 41 (3) ◽  
pp. 341-342 ◽  
Author(s):  
E. Spaggiari ◽  
E. Vuillard ◽  
S. Khung-Savatovsky ◽  
F. Muller ◽  
J.-F. Oury ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Cornelia De Lange Syndrome ◽  
Cornelia De Lange

scholarly journals Cornelia de Lange syndrome: specific features for prenatal diagnosis

2017 ◽  
Vol 49 (5) ◽  
pp. 668-670 ◽  
Author(s):  
E. Thellier ◽  
J. M. Levaillant ◽  
J. Roume ◽  
E. Quarello ◽  
J. P. Bault
Keyword(s):  
Prenatal Diagnosis ◽  
Cornelia De Lange Syndrome ◽  
Cornelia De Lange

Pregnancy-associated plasma protein A: A possible marker in the classification and prenatal diagnosis of Cornelia de Lange syndrome

1983 ◽  
Vol 3 (3) ◽  
pp. 225-232 ◽  
Author(s):  
J. G. Westergaard ◽  
J. Chemnitz ◽  
B. Teisner ◽  
H. K. Poulsen ◽  
L. Ipsen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Plasma Protein ◽  
Protein A ◽  
Cornelia De Lange Syndrome ◽  
Cornelia De Lange
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