Email this article Phenotypic variability in children with Bruck syndrome type 2: Clinical cases
- Authors: Trofimova S.I.1, Kochenova E.A.1, Agranovich O.E.1, Buklaev D.S.1, Merkuryeva E.S.2, Markova T.V.2
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Affiliations:
- H. Turner National Medical Research Center for Children’s Orthopedics and Trauma Surgery
- Research Centre for Medical Genetics
- Issue: Vol 11, No 4 (2023)
- Pages: 537-545
- Section: Clinical cases
- URL: https://journal-vniispk.ru/turner/article/view/251912
- DOI: https://doi.org/10.17816/PTORS569365
- ID: 251912
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Abstract
BACKGROUND: Bruck syndrome is a rare disorder that features osteogenesis imperfecta, combined with severe congenital joint contractures often with pterygia, short stature, severe limb deformities, and progressive scoliosis. Its two forms, Bruck syndrome types 1 and 2, have similar clinical manifestations without osomal recessive inheritance and are caused by pathogenic variants of the nucleotide sequences in the FKBP10 and PLOD2 genes, respectively.
CLINICAL CASES: The article demonstrates phenotypic and radiographic features as well as laboratory values of siblings with Bruck syndrome type 2 (a 10-year-old boy and a 13-year-old girl) born to healthy parents in a consanguineous marriage. The boy had congenital flexion contractures of the knee and elbow joints, few fractures, and severe kyphoscoliosis. The girl had no congenital joint contractures but had kyphoscoliosis, more severe osteoporosis, and a history of having more fractures than her younger brother.
DISCUSSION: The cases demonstrated the significant phenotypic intrafamilial variability of Bruck syndrome type 2, caused by a newly identified homozygous variant c.1885A>G (p.Thr629Ala) in PLOD2, which consists of varying degrees of osteoporosis, and the presence and severity of contractures.
CONCLUSIONS: The description of the given clinical observation was made to draw attention to a rare pathology and expand doctors’ knowledge about the variability of clinical manifestations of Bruck syndrome. Genetic diagnostics is necessary for the timely diagnosis of Bruck syndrome, determining the prognosis and developing patient management techniques.
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##article.viewOnOriginalSite##About the authors
Svetlana I. Trofimova
H. Turner National Medical Research Center for Children’s Orthopedics and Trauma Surgery
Author for correspondence.
Email: trofimova_sv2012@mail.ru
ORCID iD: 0000-0003-2690-7842
SPIN-code: 5833-6770
MD, PhD, Cand. Sci. (Med.)
Russian Federation, Saint PetersburgEvgeniia A. Kochenova
H. Turner National Medical Research Center for Children’s Orthopedics and Trauma Surgery
Email: jsummer84@yandex.ru
ORCID iD: 0000-0001-6231-8450
SPIN-code: 4346-5431
MD, PhD, Cand. Sci. (Med.)
Russian Federation, Saint PetersburgOlga E. Agranovich
H. Turner National Medical Research Center for Children’s Orthopedics and Trauma Surgery
Email: olga_agranovich@yahoo.com
ORCID iD: 0000-0002-6655-4108
SPIN-code: 4393-3694
MD, PhD, Dr. Sci. (Med.)
Russian Federation, Saint PetersburgDmitry S. Buklaev
H. Turner National Medical Research Center for Children’s Orthopedics and Trauma Surgery
Email: dima@buklaev.com
ORCID iD: 0000-0003-1868-3703
SPIN-code: 4640-6856
MD, PhD, Cand. Sci. (Med.)
Russian Federation, Saint PetersburgElena S. Merkuryeva
Research Centre for Medical Genetics
Email: elena.merkureva@gmail.com
ORCID iD: 0000-0001-6902-253X
MD, PhD student, geneticist
Russian Federation, MoscowTatiana V. Markova
Research Centre for Medical Genetics
Email: markova@med-gen.ru
ORCID iD: 0000-0002-2672-6294
SPIN-code: 4707-9184
MD, PhD, Cand. Sci. (Med.)
Russian Federation, MoscowReferences
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