Rare bone disease in a newborn child

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Resumo

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.

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Sobre autores

Nailya Gabitova

Kazan State Medical University

Autor responsável pela correspondência
Email: Borismk1@rambler.ru
ORCID ID: 0000-0002-8375-0565

Cand. Sci. (Med.), Associate Professor, Department of Hospital Pediatrics

Rússia, Kazan

I. Cherezova

Kazan State Medical University; Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan

Email: Borismk1@rambler.ru
ORCID ID: 0000-0001-8961-0996

Cand. Sci. (Med.), Associate Professor, Department of Hospital Pediatrics

Rússia, Kazan; Kazan

Bibliografia

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2. Figure 1. Appearance of a patient

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3. Figure 2. Ultrasound picture at 31-32 weeks of gestation

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4. Figure 3. Spontaneous fracture of the femur

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