Rare bone disease in a newborn child

N.Kh. Gabitova, I.N. Cherezova

1) Department of Hospital Pediatrics, Kazan State Medical University, Kazan, Russia; 2) Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan, Kazan, Russia

Congenital bone, joint, and muscle defects may be a manifestation of genetic syndromes, in which congenital defects extend not only to bones, joints, and muscles, but also to other organs and systems. Brooke syndrome is an autosomal recessive disorder with multiple joint contractures and bone fragility. The disease is associated with pathogenic mutations in the FKBP10 and PLOD2 genes, mapped to chromosomes 17 and 3, respectively. The PLOD2 and FKBP10 genes act during the maturation of type 1 procollagen and contribute to the molecular stability of bone tissue. Mutations in the PLOD2 and FKBP10 genes lead to abnormal bone matrix assembly and abnormal post-translational modifications of type 1 collagen, which determines the pathogenesis of brittle bone disease. The article presents a case of a rare disease with increased bone fragility, multiple congenital contractures and congenital heart defect, genetically identified as Brooke syndrome type 1.

For citations: Gabitova N.Kh., Cherezova I.N. Rare bone disease in a newborn child. Farmateka. 2025;32(1 suppl. 1):113-116. (In Russ.). DOI: https://dx.doi.org/10.18565/pharmateca.2025.1-s1.113-116

Authors’ contribution: All authors made an equivalent contribution to the preparation of the publication.
Conflicts of interest: The authors confirm that they have no conflicts of interest to declare.
Funding: The study was conducted without any sponsorship.
Patient Consent for Publication: The patients provided an informed consent for the publication of their data.

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About the Authors

Nailya Kh. Gabitova, Cand. Sci. (Med.), Associate Professor, Department of Hospital Pediatrics, Kazan State Medical University, Kazan, Russia; Borismk1@rambler.ru, ORCID: https://orcid.org/0000-0002-8375-0565 (corresponding author)
I.N. Cherezova, Cand. Sci. (Med.), Associate Professor, Department of Hospital Pediatrics, Kazan State Medical University; Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan, Kazan, Russia, ORCID: https://orcid.org/0000-0001-8961-0996