Exploring Upper Limb Malformation Associated With Cornelia De Lange Syndrome: A Clinical Case Report [PDF]
Case Reports in Obstetrics and Gynecology, Volume 2026, Issue 1, 2026.Introduction Upper extremity deformation may come in isolation, such as polydactyly, or be associated with a syndrome involving other body parts. Cornelia de Lange syndrome (CDLS) is a syndrome encompassing many abnormalities with some variation and a spectrum of severity. This case report presents a case of a baby with suspected CDLS.
Andrew Pratama Kurniawan +4 more
wiley +2 more sources
First Cornelia de Lange Syndrome Type 4 Caused by the Gonadal Mosaicism of RAD21 Deletion [PDF]
Human Mutation, Volume 2026, Issue 1, 2026.Background Cornelia de Lange syndrome (CdLS) currently has seven known causative genes, inherited in an autosomal or X‐linked dominant pattern. Clinical features are variable, including dysmorphic facial features, intrauterine and/or postnatal growth retardation, multiple organ system malformations, and neurodevelopmental disorders.
Yanchuan Xie +8 more
wiley +2 more sources
Chromosome Rearrangements in Cornelia De Lange Syndrome (CdLS): Report of a Der(3)t(3;12)(p25.3;p13.3) In Two Half Sibs With Features of CdLS and Review of Reported CdLS Cases With Chromosome Rearrangements [PDF]
American Journal of Medical Genetics, Part A, 2005 AbstractCornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited disorder characterized by multisystem involvement, cognitive delay, limb defects, and characteristic facial features. Recently, mutations in NIPBL have been found in ∼50% of individuals with CdLS.
Ian D Krantz +2 more
exaly +3 more sources
Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy [PDF]
Epilepsia, Volume 67, Issue 6, Page 3185-3198, June 2026.Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo +7 more
wiley +2 more sources
Case Report: Transient severe T cell lymphopenia in a patient with Cornelia de Lange Syndrome captured by TREC screening [PDF]
Frontiers in ImmunologyCornelia de Lange Syndrome (CdLS) is a rare multisystem disorder characterized by craniofacial dysmorphism, growth restriction, limb anomalies, intellectual disability, and mild to moderate immune abnormalities.
Hope Retif +9 more
doaj +2 more sources
Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early‐Onset Monogenic Disorders [PDF]
Prenatal Diagnosis, Volume 46, Issue 7, Page 1096-1103, June 2026.ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Yung Hang Lam +5 more
wiley +2 more sources
Contrasting Relationships Between Anxiety and Intolerance of Uncertainty in Cornelia de Lange and Fragile X Syndromes [PDF]
Journal of Intellectual Disability Research, Volume 69, Issue 12, Page 1370-1381, December 2025.ABSTRACT Background Cornelia de Lange syndrome (CdLS) and fragile X syndrome (FXS) are associated with co‐occurring autism and anxiety. In autistic people, intolerance of uncertainty (IU) mediates the relationship between autistic characteristics and anxiety, but it is not known whether this relationship is evident in these genetic syndromes ...
Kayla Smith +9 more
wiley +2 more sources
A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review [PDF]
Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.This study presents a 25‐year‐old female with global developmental delay, dysmorphic features, and a complex phenotype arising from co‐occurring chromosomal anomalies: a 6 Mb 10p15.3p14 microdeletion involving the ZMYND11 gene and a 7.6 Mb 7p22.3p21.3 microduplication.
Elia Marco Paolo Minale +11 more
wiley +2 more sources
Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients [PDF]
Pediatric Investigation, Volume 9, Issue 3, Page 293-299, September 2025.NIPBL variants (78.9%) dominate 19 Chinese pediatric Cornelia de Lange syndrome (CdLS). Universal craniofacial anomalies (94.7%) and developmental delay (84.2%) were observed. NIPBL null variants are associated with severe growth impairment and microcephaly, yet overall clinical severity remains heterogeneous, underscoring genotype‐phenotype complexity
Xiaoqiao Li +10 more
wiley +2 more sources
Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants [PDF]
BMC OphthalmologyPurpose Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that affects multiple organs, including the eyes. Ophthalmological findings in individuals with CdLS can vary, as occurs with certain features commonly associated with the syndrome ...
Thainá Vilella +12 more
doaj +2 more sources