Results 61 to 70 of about 1,020 (134)
Cornelia De Lange Syndrome(Cdls) With Tb Abdomen :A Rare Case Report
, 2017 Cornelia de Lange syndrome(CdLS) also known as Brachmann de Lange syndrome is a very rare genetic disorder characterized by growth delays; distinctive facial features; malformations of the hands, feet, arms, and/or legs (limb anomalies); other physical abnormalities; intellectual disability; and/or developmental delay . Gastroesophageal reflux disease
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Dental Management of a Rare Case of Cornelia de Lange Syndrome [PDF]
Journal of Clinical and Diagnostic ResearchA six-year-old female patient with Cornelia de Lange Syndrome (CdLS) presented to the Department of Paediatric and Preventive Dentistry with multiple mutilated teeth and an inability to chew, resulting in low food intake.
Joby Peter +4 more
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Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome
Cell Death Discovery, 2021 Cornelia de Lange Syndrome (CdLS) is a rare developmental disorder affecting a multitude of organs including the central nervous system, inducing a variable neurodevelopmental delay.
Paolo Grazioli +16 more
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A New EP300 ‐Related Syndrome With Prominent Developmental and Immune Phenotypes
American Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri +3 more
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Contemporary Clinical Dentistry, 2010 Brachman de Lange syndrome or Cornelia de Lange syndrome (CdLS) is a genetic disorder which can lead to severe developmental anomalies. It affects both the physical and intellectual development of a child.
Leena Verma, Sidhi Passi, Krishan Gauba
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Neurological Disease Syndrome Caused by a STAG1 Gene Variant: A Case Report and Literature Review
International Journal of Developmental Neuroscience, Volume 85, Issue 5, August 2025.We present a case of a child with a neurodevelopmental disorder associated with a mutation in the STAG1 gene, aiming to raise awareness of this type of disorder. ABSTRACT Background The cohesin complex is a multifunctional unit that plays a crucial role in DNA repair, replication, chromosome segregation, and gene expression.
Qi Zhang +5 more
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Case report: Cornelia de Lange Syndrome (CDLS)
, 2016 The Cornélia of Lange´s syndrome is a genetic anomaly, described and published by Cornelia Catharina of Lange in 1933, however, their aspects were described previously by Winfried Robert Clemens Brechmann in 1916, that’s why it is also known as Brachmann of Lange’s syndrome.
Moretto, Marcelo Juliano +2 more
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A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome
Case Reports in Pediatrics, 2020 Cornelia de Lange syndrome (CdLS) is a rare syndromic genetic disorder characterized by multiple congenital anomalies with upper limb reduction defects, along with cardiac, gastrointestinal, and genitourinary defects.
Pamela Rodríguez, Karla Asturias
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Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance
Journal of Neurodevelopmental Disorders, 2017 Background The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment.
Donna Reid +4 more
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Cohesinopathies of a feather flock together.
PLoS Genetics, 2013 Roberts Syndrome (RBS) and Cornelia de Lange Syndrome (CdLS) are severe developmental maladies that present with nearly an identical suite of multi-spectrum birth defects.
Robert V Skibbens +6 more
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