Results 21 to 30 of about 3,407 (171)
Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation
Case Reports in Genetics, 2012 Cornelia de Lange syndrome is a dominantly inherited, genetically heterogeneous and clinically variable syndrome with multiple congenital anomalies and developmental delay.
Rose H. Mende +3 more
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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
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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 +2 more
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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 +4 more
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Síndrome de Cornelia de Lange: análise de uma série de 33 pacientes em um centro de referência
Clinical and Biomedical Research, 2022 Introdução A Síndrome de Cornelia de Lange (CdLS) (OMIM: 122470) é uma doença genética rara com quadro clínico e fenótipo variáveis, compreendendo um grupo de doenças denominado coesinopatia. Entre suas principais características destacam-se: deficiência
Gustavo Henrique Torraca Larangeira +6 more
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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 +14 more
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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 +6 more
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Indian Journal of Human Genetics, 2008 Cornelia de Lange syndrome (CDLS) is a rare multiple congenital anomaly syndrome characterized by a distinctive facial appearance, developmental delay, growth retardation, low birth weight, skeletal formation anomaly, and hirsutism.Here for the first time a case of CDLS from Iran, a 15-week-old male infant who was refereed as a case of multiple ...
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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. O cariotipo é normal.
Lineu Cesar Werneck, F. A. Marçallo
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Nature Communications, 2021 Patients with Cornelia de Lange Syndrome (CdLS) often have mutations in cohesin and its regulators; however, the molecular mechanism driving CdLS phenotypes is not well established.
Patricia Garcia +15 more
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