Results 11 to 20 of about 15,137 (146)

Identification of a novel de novo mutation in the NIPBL gene in an Iranian patient with Cornelia de Lange syndrome: A case report

Journal of Medical Case Reports, 2011
Background Cornelia de Lange syndrome is characterized by dysmorphic facial features, hirsutism, severe growth and developmental delay. Germline mutations in the NIPBL gene with an autosomal dominant pattern and in the SMC1A gene with an X-linked pattern
Mohamadian Gholamreza, Nazem Habibolah, Monajemzadeh Roya, Galehdari Hamid, Pedram Mohammad   +4 more
doaj   +1 more source

Mania in Cornelia de Lange Syndrome: Diagnostic Challenges and the Role of Multidisciplinary Care – A Case Report [PDF]

Eurasian Journal of Family Medicine
Cornelia de Lange syndrome is a rare cohesinopathy characterized by multisystem involvement, intellectual disability, and a distinct behavioural phenotype. Psychiatric comorbidities remain underrecognised.
Alvin J Joseph, John Abraham
doaj   +1 more source

Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome

Orphanet Journal of Rare Diseases, 2017
Cornelia de Lange Syndrome (CdLS) is a choesinopathy: a severe genetic disorder caused by mutations in the cohesin complex genes. The phenotype is characterized by typical facial dysmorphism, growth impairment and multiorgan abnormalities including brain
Laura Avagliano, Paolo Grazioli, Milena Mariani, Gaetano P. Bulfamante, Angelo Selicorni, Valentina Massa   +5 more
doaj   +1 more source

Prenatal Ultrasound Signs of Cornelia de Lange Syndrome in Monochorionic Twins: Case Study

Вопросы современной педиатрии, 2022
Background. Cornelia de Lange syndrome is rare genetic disease manifested by short stature, limb abnormalities, craniofacial dysmorphies, and developmental delay.
Nodira M. Normuradova, Odil A. Khujakulov, Mahliyo Sh. Ergasheva, Eshdavlat R. Ollanazarov, Bekhruz B. Majidov   +4 more
doaj   +1 more source

Cornelia de Lange syndrome: A case series from a resource-limited country

Journal of Pediatric Neurosciences, 2018
Cornelia de Lange syndrome is a rare genetic condition with developmental disorder and malformation affecting multiple systems. To describe the clinical and laboratory details and outcome of the children diagnosed with Cornelia de Lange syndrome, we ...
Indar K Sharawat, Lesa Dawman
doaj   +1 more source

Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature

Oman Journal of Ophthalmology, 2014
Cornelia de Lange syndrome (CdLS), also called Brachmann-de Lange syndrome, is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, ophthalmological abnormalities, prenatal and postnatal growth deficiency, psychomotor ...
Bhamy Hariprasad Shenoy, Amit Gupta, Virender Sachdeva, Ramesh Kekunnaya   +3 more
doaj   +1 more source

High rate of autonomic neuropathy in Cornelia de Lange Syndrome

Orphanet Journal of Rare Diseases, 2021
Background Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in several genes that disrupt gene ...
M. J. Pablo, P. Pamplona, M. Haddad, I. Benavente, A. Latorre-Pellicer, M. Arnedo, L. Trujillano, G. Bueno-Lozano, L. M. Kerr, S. A. Huisman, F. J. Kaiser, F. Ramos, A. D. Kline, J. Pie, B. Puisac   +14 more
doaj   +1 more source

A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation

Diagnostics, 2021
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 ...
Anca Maria Panaitescu, Simona Duta, Nicolae Gica, Radu Botezatu, Florina Nedelea, Gheorghe Peltecu, Alina Veduta   +6 more
doaj   +1 more source

Audiological profile of individuals with Cornelia de Lange syndrome: an integrative review [PDF]

Revista CEFAC, 2022
Purpose: to describe the audiological profile of patients with Cornelia de Lange syndrome (CdLS) in an integrative review of the literature. Methods: after developing the research question, articles were searched in six databases (EMBASE, ISI of ...
Nayara Pereira Santos, Liliane Aparecida Fagundes Silva, Chong Ae Kim, Carla Gentile Matas   +3 more
doaj   +1 more source

Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome

Mental Illness, 2015
Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities
Lucia Parisi, Teresa Di Filippo, Michele Roccella   +2 more
doaj   +1 more source