Ukrainian Journal of Perinatology and Pediatrics. 2025.3(103): 191-196. doi: 10.15574/PP.2025.3(103).191196
Horobets N. I.¹, Pochynok T. V.¹, Horobets N. M.¹, Horobets A. O.¹, Gunko I. P.², Kurets O. O.^2
1Bogomolets National Medical University, Kyiv, Ukraine
²National Pirogov Memorial Medical University, Vinnytsia, Ukraine

For citation: Horobets NI, Pochynok TV, Horobets NM, Horobets AO, Gunko IP, Kurets OO. (2025). A modern view of Cornelia de Lange syndrome in children. Ukrainian Journal of Perinatology and Pediatrics. 3(103): 191-196. doi: 10.15574/PP.2025.3(103).191196.
Article received: Apr 28, 2025. Accepted for publication: Sep 15, 2025.

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.
Keywords: children, Cornelia de Lange, dysmorphisms, chromosomal microduplication.

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