Results 41 to 50 of about 1,020 (134)

An eighteen month-old infant with Cornelia de Lange syndrome: a case report [PDF]

Iranian Journal of Neonatology, 2015
Cornelia de Lange syndrome (CdLS) is an uncommon multiple congenital anomaly with unknown cause and recurrent risk and may be the result of an inheritance metabolic error.
Reza saeidi, Maryam saeidi, Majtaba adineh   +2 more
doaj  

Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients

BMC Medical Genetics, 2019
Background Cornelia de Lange syndrome (CdLS), a rare, multisystemic disorder, has been linked to genetic alterations in NIPBL, SMC1A, SMC3, HDAC8, and RAD21 genes. Approximately 60% of CdLS patients harbor various NIPBL variants.
Natalia Krawczynska, Jolanta Wierzba, Jacek Jasiecki, Bartosz Wasag   +3 more
doaj   +1 more source

Late-onset cluster seizures and intellectual disability associated with a novel truncation variant in SMC1A

Epilepsy & Behavior Reports, 2022
SMC1A variants are known to cause Cornelia de Lange Syndrome (CdLS) which encompasses a clinical spectrum of intellectual disability, dysmorphic features (long or thick eyebrows, a hypomorphic philtrum and small nose) and, in some cases, epilepsy.
Menatalla Elwan, Ross Fowkes, David Lewis-Smith, Amy Winder, Mark R. Baker, Rhys H. Thomas   +5 more
doaj   +1 more source

Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS

Frontiers in Neurology, 2018
Splicing pathogenic variants account for a notable fraction of NIPBL alterations underlying Cornelia de Lange syndrome but are likely underrepresented, due to overlooking of non-canonical intronic variants by traditional and contemporary sequencing ...
Maura Masciadri, Anna Ficcadenti, Donatella Milani, Francesca Cogliati, Maria Teresa Divizia, Lidia Larizza, Silvia Russo   +6 more
doaj   +1 more source

Congenital vaginal obstruction in a female with Cornelia de Lange syndrome: A case report

Frontiers in Endocrinology, 2022
Cornelia de Lange syndrome (CdLS) is a rare genetic disease involving multiorgan systems that varies in clinical manifestations. Female genital abnormalities in patients with CdLS are rarely reported, and current guidelines for CdLS contain little ...
Yiding Shen, Dongyan Zhao, Long Sun, Xiuzhen Yang, Xiang Yan   +4 more
doaj   +1 more source

A Novel Fetal Intracranial Measurement Contributing to the Differential Diagnosis of Fetal Microcephaly

Journal of Ultrasound in Medicine, Volume 45, Issue 7, Page 1409-1418, July 2026.
Objectives To evaluate the value of the thickness of the frontal lobe (TFL) and foramen magnum‐to‐cranium distance (FCD) for predicting poor neurodevelopmental outcomes in fetuses with a small head circumference (HC). Methods This retrospective observational study included 39 fetuses with HC < −2 standard deviations (SD) and 592 prospectively collected
Xi Du, Rong Zhu, HongJia Li, Ying Zhao, LinLin Wu, Hong Pan, YiNan Ma, XinLin Hou, JunYa Chen   +8 more
wiley   +1 more source

Cornelia de Lange syndrome – a rarely seen disorder

South African Journal of Obstetrics and Gynaecology, 2015
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder of unknown causation, associated with multiple congenital anomalies. Prenatal genetic diagnosis is possible, and the syndrome can occur in subsequent pregnancies of families with affected ...
Yasemin Çekmez, Nilay PiÅŸinpaÅŸa, Tülay Tos   +2 more
doaj   +1 more source

Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3

Clinical Case Reports, 2017
Key Clinical Message Clinical features are variable in patients with Cornelia de Lange syndrome (CdLS). Milder forms exist with structural maintenance of chromosomes 3 (SMC3) mutations.
Elena Infante, Gorka Alkorta‐Aranburu, Areeg El‐Gharbawy   +2 more
doaj   +1 more source

Lifespan trajectory of affect in Cornelia de Lange syndrome: towards a neurobiological hypothesis

Journal of Neurodevelopmental Disorders, 2019
Background Depressive symptomology and low affect are comparatively common in individuals with genetic disorders such as Cornelia de Lange syndrome. However, lifespan trajectories and associated person characteristics have not been examined.
Laura Groves, Joanna Moss, Hayley Crawford, Lisa Nelson, Chris Stinton, Gursharan Singla, Chris Oliver   +6 more
doaj   +1 more source

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants

Clinical Genetics, Volume 109, Issue 6, Page 1038-1048, June 2026.
PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen, Elke de Boer, Gholson J. Lyon, Bert B. A. de Vries, Charlotte W. Ockeloen, Alexander J. M. Dingemans   +5 more
wiley   +1 more source