scholarly journals Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome

2019 ◽  
Vol 7 ◽  
Author(s):  
Natalia Krawczynska ◽  
Jolanta Wierzba ◽  
Bartosz Wasag
Keyword(s):  
Cornelia De Lange Syndrome ◽  
Genetic Mosaicism ◽  
Cornelia De Lange

scholarly journals i-gel: a new supraglottic device for effective resuscitation of a very low birthweight infant with Cornelia de Lange syndrome

2015 ◽  
Vol 2015 (mar24 2) ◽  
pp. bcr2014209124-bcr2014209124 ◽  
Author(s):  
A. Galderisi ◽  
G. De Bernardo ◽  
E. Lorenzon ◽  
D. Trevisanuto
Keyword(s):  
Low Birthweight ◽  
Cornelia De Lange Syndrome ◽  
Very Low Birthweight ◽  
Cornelia De Lange ◽  
Very Low Birthweight Infant

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.

scholarly journals Targeted Gene Sequencing, Bone Health, and Body Composition in Cornelia de Lange Syndrome

2021 ◽  
Vol 11 (2) ◽  
pp. 710
Author(s):  
Ángel Matute-Llorente ◽  
Ángela Ascaso ◽  
Ana Latorre-Pellicer ◽  
Beatriz Puisac ◽  
Laura Trujillano ◽  
...  
Keyword(s):  
Body Composition ◽  
Lean Mass ◽  
Bone Health ◽  
Cornelia De Lange Syndrome ◽  
Areal Bone Mineral Density ◽  
Childhood And Adolescence ◽  
Mineral Density ◽  
Calcium Phosphorus ◽  
Cornelia De Lange ◽  
Targeted Gene Sequencing

The aim of this study was to evaluate bone health and body composition by dual-energy X-ray absorptiometry (DXA) in individuals with Cornelia de Lange Syndrome (CdLS). Overall, nine individuals with CdLS (five females, all Caucasian, aged 5–38 years) were assessed. Total body less head (TBLH) and lumbar spine (LS) scans were performed, and bone serum biomarkers were determined. Molecular analyses were carried out and clinical scores and skeletal features were assessed. Based on deep sequencing of a custom target gene panel, it was discovered that eight of the nine CdLS patients had potentially causative genetic variants in NIPBL. Fat and lean mass indices (FMI and LMI) were 3.4–11.1 and 8.4–17.0 kg/m2, respectively. For TBLH areal bone mineral density (aBMD), after adjusting for height for age Z-score of children and adolescents, two individuals (an adolescent and an adult) had low BMD (aBMD Z-scores less than –2.0 SD). Calcium, phosphorus, 25-OH-vitamin D, parathyroid hormone, and alkaline phosphatase levels were 2.08–2.49 nmol/L, 2.10–3.75 nmol/L, 39.94–78.37 nmol/L, 23.4–80.3 pg/mL, and 43–203 IU/L, respectively. Individuals with CdLS might have normal adiposity and low levels of lean mass measured with DXA. Bone health in this population seems to be less of a concern during childhood and adolescence. However, they might be at risk for impaired bone health due to low aBMD in adulthood.

The Cornelia de Lange syndrome

1963 ◽  
Vol 63 (5) ◽  
pp. 1000-1020 ◽  
Author(s):  
Louis J. Ptacek ◽  
John M. Opitz ◽  
David W. Smith ◽  
Theo Gerritsen ◽  
Harry A. Waisman
Keyword(s):  
Cornelia De Lange Syndrome ◽  
Cornelia De Lange

A new report of Cornelia de Lange syndrome associated with split hand and feet

2012 ◽  
Vol 158A (11) ◽  
pp. 2953-2955 ◽  
Author(s):  
Chiara Barboni ◽  
Anna Cereda ◽  
Milena Mariani ◽  
Cristina Gervasini ◽  
Paola Ajmone ◽  
...  
Keyword(s):  
Cornelia De Lange Syndrome ◽  
Cornelia De Lange

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

2009 ◽  
Vol 29 (5) ◽  
pp. 489-494 ◽  
Author(s):  
Karen Chong ◽  
Sarah Keating ◽  
Stephanie Hurst ◽  
Anne Summers ◽  
Howard Berger ◽  
...  
Keyword(s):  
Cornelia De Lange Syndrome ◽  
Autopsy Findings ◽  
Cornelia De Lange

scholarly journals mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome

2017 ◽  
Vol 18 (3) ◽  
pp. 481 ◽  
Author(s):  
Beatriz Puisac ◽  
María-Esperanza Teresa-Rodrigo ◽  
María Hernández-Marcos ◽  
Carolina Baquero-Montoya ◽  
María-Concepción Gil-Rodríguez ◽  
...  
Keyword(s):  
Cornelia De Lange Syndrome ◽  
Human Tissues ◽  
Mrna Quantification ◽  
Cornelia De Lange ◽  
Pathological Variant
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