A modern view of Cornelia de Lange syndrome in children
DOI:
https://doi.org/10.15574/PP.2025.3(103).191196Keywords:
children, Cornelia de Lange, dysmorphisms, chromosomal microduplicationAbstract
Cornelia de Lange syndrome (CdLS) is a rare multisystemic disease with the involvement of numerous organs and systems.
Aim - based on clinical case of a child to discover modern clinical, diagnostic and rehabilitative principles of CdLS in children.
Clinical case. A clinical case of 37 months old child with classical phenotype CdLS, born with 1400 g of body weight and 36 cm of body length, 5-7 points according to Apgar scale, microcephaly, facial dysmorphism, short trunk and extremities and multiple congenital defects is described in the article. Cytogenetic test has verified CdLS: genotype - gene MTHFR 677 СТ (heterozygote), gene MTRR 66 GG (heterozygote); caryotype 46, XX, G-C - coloration, 1% of chromosomal instability. The child has been hospitalized with physical and psychical development retardation, vomiting, regurgitation, constipations, flabbiness, blepharoptosis and myopia. She is supervised by pediatrician, neurologist, cardiologist, cardiac surgeon and endocrinologist and receives replacement treatment due to somatogenic insufficiency. Laboratory and instrumental findings with no pathological changes. Diagnosis: Psychoverbal and physical development delay (under 3 percentile). Somatotropic insufficiency, Tricuspid regurgitation, I degree. Abnormal chord of the left ventricle. Gastroesophageal reflux. Irritable bowel syndrome with constipation. Myopy of high degree. The child has received symptomatic therapy, growth hormone, nootropic drugs, vitamins and massage. Child’s mother has been as well recommended complex individual program of training with speech therapist, defectologist and psychologist and art-therapy.
Conclusions. Majority of CdLS cases are ones with classical phenotype, however a great number of variants with atypical signs exist, therefore unified clinical diagnostic criteria may be of certain importance for diagnosis verification.
The study is fulfilled according to the Declaration of Helsinki principles. Parents’ agreement has been received for it.
Authors declare no conflict of interests.
References
Avagliano L, Parenti I, Grazioli P, Di Fede E, Parodi C, Mariani M et al. (2020). Chromatinopathies: A focus on Cornelia de Lange syndrome. Clin. Genet. 97: 3-11. https://doi.org/10.1111/cge.13674; PMid:31721174
Baranano KW, Kimball A, Fong SL, Egense AS, Hudon C, Kline AD. (2022). Further characterization of SMC1A loss of function epilepsy distinct from Cornelia de Lange syndrome. J Child Neurol. 37: 390-396. https://doi.org/10.1177/08830738221081244; PMid:35238682
Kang D, Kim HY, Chae J-H, Ko JM. (2022). Clinical and molecular characteristics of Korean children with Cornelia de Lange syndrome. Journal of Genetic Medicine. 19: 85-93. https://doi.org/10.5734/JGM.2022.19.2.85
Kline AD, Moss JF, Selicorni A et al. (2018). Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Nature Reviews Genetics. 19(10): 649-666. https://doi.org/10.1038/s41576-018-0031-0; PMid:29995837 PMCid:PMC7136165
National Organization for Rare Disorders. (2023). Cornelia de Lange syndrome. URL: https://rarediseases.org/rare-diseases/cornelia-de-lange-syndrome/.
Ng R, O'Connor J, Summa D et al. (2024). Neurobehavioral and developmental profiles: genotype-phenotype correlations in individuals with Cornelia de Lange syndrome. Orphanet J Rare Dis. 19: 111. https://doi.org/10.1186/s13023-024-03104-1; PMid:38462617 PMCid:PMC10926648
Panaitescu AM, Duta S, Gica N, Botezatu R, Nedelea F et al. (2021, Jan). A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation. Diagnostics. 11(1): 142. https://doi.org/10.3390/diagnostics11010142; PMid:33478103 PMCid:PMC7835910
Panarotto M, Davidson IF, Litos G, Peters J-M. (2022). Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion. PNAS. 119(18): e2201029119. https://doi.org/10.1073/pnas.2201029119; PMid:35476527 PMCid:PMC9170158
Sarogni P, Pallotta MM, Musio A. (2020, May). Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach. J Med Genet. 57(5): 289-295. https://doi.org/10.1136/jmedgenet-2019-106277; PMid:31704779 PMCid:PMC7231464
Selicorni A, Lalatta F, Livini E, Briscioli V, Piguzzi T, Bagozzi DC et al. (2021). Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum. Genes. 12: 1075. https://doi.org/10.3390/genes12071075; PMid:34356091 PMCid:PMC8307173
Downloads
Published
Issue
Section
License
Copyright (c) 2025 Ukrainian Journal of Perinatology and Pediatrics
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
The policy of the Journal “Ukrainian Journal of Perinatology and Pediatrics” is compatible with the vast majority of funders' of open access and self-archiving policies. The journal provides immediate open access route being convinced that everyone – not only scientists - can benefit from research results, and publishes articles exclusively under open access distribution, with a Creative Commons Attribution-Noncommercial 4.0 international license(СС BY-NC).
Authors transfer the copyright to the Journal “MODERN PEDIATRICS. UKRAINE” when the manuscript is accepted for publication. Authors declare that this manuscript has not been published nor is under simultaneous consideration for publication elsewhere. After publication, the articles become freely available on-line to the public.
Readers have the right to use, distribute, and reproduce articles in any medium, provided the articles and the journal are properly cited.
The use of published materials for commercial purposes is strongly prohibited.
