Results 1 to 10 of about 60,147,798 (196)

A de novo start-loss variant in the NIPBL gene causing mild type 1 Cornelia de Lange syndrome in an Iranian family: A Case Report [PDF]

Journal of Medical Case Reports
Background Cornelia de Lange syndrome is a rare congenital disorder marked by considerable clinical variability, including intellectual disability, growth retardation, distinctive facial features, limb abnormalities, and multisystem involvement.
Atefeh Mir, Zahra Abbasi, Yongjun Song, Hane Lee, Ali Khajeh, Mojdeh Jahantigh, Samira Hajigholami, Shadi Khedri, Mohammad-Amin Tabatabaiefar   +8 more
doaj   +2 more sources

Audiological Characterization of Individuals with Cornelia de Lange Syndrome [PDF]

International Archives of Otorhinolaryngology
Introduction Cornelia de Lange Syndrome (CdLS) is a genetic disorder in which individuals may present sensorineural and/or conductive hearing loss, and the results of behavioral auditory assessments are not accurate.
Nayara Pereira Santos, Liliane Aparecida Fagundes Silva, Ivone Ferreira Neves-Lobo, Chong Ae Kim, Carla Gentile Matas   +4 more
doaj   +2 more sources

Neuropsychiatric manifestations in Cornelia de Lange syndrome [PDF]

European Psychiatry, 2023
Introduction Cornelia De Lange syndrome (CdLS) is a dominant and rare genetically heterogeneous syndrome. It is characterized by a large phenotypical spectrum going from a classical to a non-classical form affecting multiple organ systems including ...
F. Majdoub, A. Souissi, M. Trabelsi, A. Ziadi, N. Belguith, F. Maazoul, M. Guirat, I. Boujelbene, H. Kamoun, R. Mrad, S. Masmoudi, I. Ben Ayed   +11 more
doaj   +2 more sources

Neurobehavioral and developmental profiles: genotype–phenotype correlations in individuals with Cornelia de Lange syndrome [PDF]

Orphanet Journal of Rare Diseases
Background Cornelia de Lange (CdLS) is a rare genetic disorder that affects most body systems. Variants in multiple genes including NIPBL and SMC1A, can cause the syndrome.
Rowena Ng, Julia O’Connor, Deirdre Summa, Antonie D. Kline   +3 more
doaj   +2 more sources

Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports

Italian Journal of Pediatrics, 2023
Background Cornelia de Lange syndrome is a rare genetic disease with otolaryngological involvement. The classic phenotype is characterized by distinctive facial features, intellectual disability, growth delay, hirsutism, and upper-limb reduction.
Roberta Onesimo, Rita De Santis, Chiara Leoni, Mario Rigante, Marco Piastra, Elisabetta Sforza, Angelo Selicorni, Giuseppe Zampino   +7 more
doaj   +1 more source

Case study of girl with Cornelia de Lange syndrome

Listy klinicke logopedie, 2023
Cornelia de Lange Syndrome is a genetic syndrome with manifestations in the somatic, cognitive and perceptual areas. It is characterised by interindividual differences among patients with this diagnosis. Impairments include vision and hearing impairments,
Adelaida Fábianová, Žofia Frajková, Miroslav Tedla   +2 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

Classic Cornelia de Lange syndrome with variant of unknown significance detected in NIPBL gene mutation: a case report

Egyptian Journal of Medical Human Genetics, 2021
Background Cornelia de Lange syndrome is a relatively uncommon disorder associated with multiple congenital anomalies/mental retardation of unknown etiology with its incidence varying from 1:10,000 to 1:50,000 live births in different population groups ...
Jay J. Desai, Sreelata B. Nair, S. Pappachan   +2 more
doaj   +1 more source

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

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