Results 61 to 70 of about 3,407 (171)

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

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, Volume 110, Issue 1, Page 29-35, July 2026.
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith, Victor Faundes, Xiaonan Zhao, Bixia Zheng, Gang Zhang, Xiao Mao, Emily Danko, Jason Laufman, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Brynjar Örn Jensson, Telma S. Sulem, Patrick Sulem, Jill A. Rosenfeld, Daryl A. Scott   +15 more
wiley   +1 more source

Disfagia orofaríngea em crianças com síndrome Cornélia de Lange Oropharyngeal dysphagia in children with Cornelia de Lange syndrome

Revista CEFAC, 2010
OBJETIVO: descrever os achados das fases oral e faríngea da deglutição, bem como os aspectos sensório-motores orofaciais relevantes em crianças com a síndrome Cornélia de Lange. MÉTODOS: trata-se de relato de caso, retrospectivo.
Priscila Martins Foroni, Anne Marques Beato, Liciane Pinelli Valarelli, Luciana Vitaliano Voi Trawitzki   +3 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

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

A flexible loop in the Smc3 head domain is required for stability and cohesin complex integrity

Scientific Reports
Smc3 is a core subunit of the cohesin complex and is essential for its biological function. Cohesin, an evolutionarily conserved complex of the Structural Maintenance of Chromosomes (SMC) family, mediates the higher-order organization of chromatin and ...
Wisal Asaad, Avi Matityahu, Itay Onn
doaj   +1 more source

Poliposis nasal en un paciente pediátrico con síndrome de Cornelia de Lange

Revista del Hospital Italiano de Buenos Aires
El síndrome de Cornelia de Lange es un trastorno malformativo múltiple congénito, provocado por diversos tipos de mutaciones genéticas, que se caracteriza por un fenotipo facial distintivo, anomalías en las extremidades superiores y retraso del ...
Sebastián Aragón, Elián García Pita, Lourdes Príncipe   +2 more
doaj  

Cornelia de Lange Syndrome [PDF]

, 2020
Anne L. Calof, Rosaysela Santos, Laura Groves, Christopher Oliver, Arthur D. Lander   +4 more
  +5 more sources

Síndrome Cornelia de Lange [PDF]

Revista chilena de pediatría, 1980
Broitman D, Humberto Heredia, J. Fernando Campos, M Daniel   +3 more
openaire   +1 more source

Cornelia de Lange syndrome- Report of the Second Case from Ahvaz

Majalah-i ̒ilmī pizishkī-i jundī/shapūr, 2012
Cornelia de Lange syndrome (CdLS) is a rare hereditary disease, characterized by severe growth retardation, microcephaly, and limb anomalies, distinctive dysmorphic features and mental retardation. The etiology is not still clear.
Ali Ahmadzadeh, Azin Ahmadzadeh, Mohammadreza Fathi, Arash Ahmadzadeh   +3 more
doaj