Fetal phenotype of Cornelia de Lange syndrome with a molecular confirmation

QX Yu, XY Jing, XM Lin, L Zhen, DZ Li - European Journal of Obstetrics & …, 2023 - Elsevier
Objective To present the fetal features of Cornelia de Lange Syndrome (CdLS) with a
molecular confirmation. Study design This was a retrospective study of 13 cases with CdLS …

Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally

MA Dempsey, AE Knight Johnson, BS Swope… - Prenatal …, 2014 - Wiley Online Library
ABSTRACT Objectives Cornelia de Lange syndrome (CdLS) is characterized by distinct
facial features, growth retardation, upper limb reduction defects, hirsutism, and intellectual …

Clinical diagnosis of classical Cornelia de Lange syndrome made from postmortem examination of second trimester fetus with novel NIPBL pathogenic variant

J Hague, P Twiss, Z Mead… - Pediatric and …, 2019 - journals.sagepub.com
Classical Cornelia de Lange syndrome (CdLS) is a rare genetic disorder which is
associated with distinctive facial features, growth retardation, significant intellectual disability …

Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies

DM Clark, I Sherer, MA Deardorff… - American Journal of …, 2012 - Wiley Online Library
Abstract Cornelia de Lange Syndrome (CdLS) is a multisystem developmental disorder
characterized by growth retardation, cognitive impairment, external and internal structural …

[引用][C] Cornelia de Lange syndrome: specific features for prenatal diagnosis

E Thellier, JM Levaillant, J Roume… - … in Obstetrics & …, 2017 - Wiley Online Library
We present here a series of seven fetuses with ultrasound characteristics and abnormalities
associated with Cornelia de Lange syndrome (CdLS) that were referred to our tertiary center …

Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings

K Chong, S Keating, S Hurst… - … in Affiliation With the …, 2009 - Wiley Online Library
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 …

[引用][C] Ultrasound detection of eyelashes: a clue for prenatal diagnosis of Cornelia de Lange syndrome

E Spaggiari, E Vuillard… - … in Obstetrics & …, 2013 - Wiley Online Library
Cornelia de Lange syndrome (CdLS) is an autosomal congenital disease caused by
mutation of the NIPBL gene in 50% of cases, with a frequency of 1 in 10000 to 1 in 100000 …

Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review

C Liu, X Li, J Cui, R Dong, Y Lv, D Wang… - … Genetics & Genomic …, 2020 - Wiley Online Library
Abstract Background Cornelia de Lange syndrome (CdLS) is a rare congenital
developmental disorder with variable multisystem involvement and genetic heterogeneity …

Cornelia de lange syndrome

RG Sinkey, AO Odibo, RJ Bradshaw - Obstetric Imaging: Fetal Diagnosis …, 2018 - Elsevier
Abstract Cornelia de Lange syndrome (CdLS) should be considered in any fetus with growth
restriction in addition to limb or craniofacial abnormalities, with or without a congenital heart …

Cornelia de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation

J Weichert, A Schröer, DA Beyer… - The Journal of …, 2011 - Taylor & Francis
Cornelia de Lange syndrome (CdLS)(also referred to as Brachmann-de Lange syndrome)
constitutes a multisystem developmental anomaly which is characterized by facial …