Results 11 to 20 of about 3,407 (171)

Cornelia de Lange Spectrum

Anales de Pediatría (English Edition)
Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder with multisystemic involvement. The clinical presentation is highly variable, but the classic phenotype, characterized by distinctive craniofacial features, pre- and postnatal ...
Ángela Ascaso, María Arnedo, Beatriz Puisac, Ana Latorre-Pellicer, Julia del Rincón, Gloria Bueno-Lozano, Juan Pié, Feliciano J. Ramos   +7 more
doaj   +3 more sources

Cornelia de-Lange syndrome

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2005
Cornelia De Lange syndrome is a relatively uncommon, multiple congenital anomaly / mental retardation disorder of unknown etiology. Its incidence has been reported to vary from 1 : 30,000 to 1 : 50,000 of live births, without any known racial ...
Gupta D, Goyal S
doaj   +3 more sources

Síndrome de Cornelia de Lange Cornelia de Lange syndrome: a case report

Arquivos de Neuro-Psiquiatria, 1972
É relatado um caso do síndrome de Cornelia de Lange em menina de 9 anos de idade, caracterizado por deficiência mental, hirsutismo, synophris, anormalidades esqueléticas e dermatoglíficas.
Lineu Cesar Werneck, F. A. Marçallo
doaj   +1 more source

Cornelia de Lange syndrome

Indian Journal of Endocrinology and Metabolism, 2013
H Babul Reddy, K Neelaveni, K. V. S. Hari Kumar   +2 more
doaj   +3 more sources

Gambaran Perkembangan Komunikasi Anak Cornelia de Lange Syndrome (CdLS)

Jurnal Ilmu Keperawatan Anak, 2019
Cornelia de Lange Syndrome (CdLS) adalah gangguan perkembangan multisistem yang dikaitkan dengan gangguan kognitif, malformasi dan gangguan wajah internal yang khas.
Tri Retno Indah Susanti, Meira Erawati, Dwi Retno Nurniningsih   +2 more
doaj   +1 more source

Cornelia de Lange syndrome

The Turkish Journal of Pediatrics, 1969
B Say, S Balci, M Atasu
doaj   +2 more sources

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

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