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- Title
SÍNDROME DE CORNELIA DE LANGE: ANÁLISE DE UMA SÉRIE DE 33 PACIENTES EM UM CENTRO DE REFERÊNCIA.
- Authors
Larangeira, Gustavo Henrique Torraca; Gallo de Souza, Laila Maria Silveira; Valeriano de Almeida, Julia; de Araujo Moraes, Yuri Costa; Santana Correia, Patricia; Horovitz, Dafne Dain Gandelman; Llerena Junior, Juan Clinton
- Abstract
Introduction: Cornelia de Lange syndrome (CdLS) (OMIM: 122470) is a rare genetic disease with variable clinical presentation and phenotype, part of a group of disorders termed cohesinopathies. Intellectual disability, growth retardation, gastroesophageal reflux disease, hypertrichosis, facial dysmorphisms, and anomalies of the upper limbs are the most common clinical characteristics. Diagnosis may be difficult, especially in attenuated presentations. The aim of this study was to determine the main clinical and molecular findings in a series of patients with clinical diagnosis of CdLS. Methods: Thirty-three patients with typical clinical and/or molecular diagnosis of CdLS (18 female and 15 male) aged between 1 month and 43 years were evaluated. A clinical score was applied to categorize patients. This tool uses clinical signs to determine the classic (n: 23) and nonclassic (n: 6) forms, in addition to a category to suggest which cases should be molecularly tested for the syndrome (n: 4). Results: Developmental delay/intellectual disability, behavioral disorders, growth retardation, and gastroesophageal reflux disease were the most prevalent comorbidities. Dysmorphic features included synophrys micrognathia, anteverted nostrils, and labial commissure turning downwards. Molecular findings in those who underwent whole exome sequencing revealed 6 variants in NIPBL (46%), 2 variants in SMC1A (15%), 1 variant in SMC3, 1 variant in HDAC8, 1 variant in AHDC1, and 2 negative results. Conclusions: The data revealed a great heterogeneity in the presentation of the syndrome. The use of clinical scores can help in the diagnosis of CdLS.
- Subjects
SYMPTOMS; GENETIC disorders; GROWTH disorders; DEVELOPMENTAL delay; MOLECULAR diagnosis; GASTROESOPHAGEAL reflux
- Publication
Clinical & Biomedical Research, 2022, Vol 42, Issue 2, p66
- ISSN
2357-9730
- Publication type
Article
- DOI
10.22491/2357-9730.117215