Evidence map›Paper›PMID 42471862›Full record

ArticleBone reports2026

Extending the global landscape of Bruck syndrome: Case series of Indonesian and Ukrainian patients with PLOD2 pathogenic variants and literature review.

Devina Afraditya Paveta, Agustini Utari, Ferdy Kurniawan Cayami, Alessandra Maugeri, Aare Märtson, Sulev Kõks, Andrii Pashenko, Sergii Khmyzov, Elisabeth Marelise W Eekhoff, Katre Maasalu and 2 more

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In one paragraph

Article in Bone reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

12 authors.

Devina Afraditya PavetaMaster of Biomedical Science, Faculty of Medicine, Universitas Diponegoro, Semarang, Indonesia.
Agustini UtariCenter of Biomedical Research (CEBIOR), Faculty of Medicine, Universitas Diponegoro, Semarang, Indonesia.
Ferdy Kurniawan CayamiCenter of Biomedical Research (CEBIOR), Faculty of Medicine, Universitas Diponegoro, Semarang, Indonesia.
Alessandra MaugeriDepartment of Human Genetics, Amsterdam Reproduction and Development, Amsterdam Movement Sciences, Amsterdam UMC Location Vrije Universiteit, Amsterdam, the Netherlands.
Aare MärtsonUniversity of Tartu, Department of Orthopaedics, Tartu, Estonia.
Sulev KõksPersonalised Medicine Centre, Murdoch University, Murdoch, WA, Australia.
Andrii PashenkoSytenko Institute of Spine and Joint Pathology, National Academy of Medical Science of Ukraine, Kharkiv, Ukraine.
Sergii KhmyzovSytenko Institute of Spine and Joint Pathology, National Academy of Medical Science of Ukraine, Kharkiv, Ukraine.
Elisabeth Marelise W EekhoffDepartment of Endocrinology and Metabolism, Amsterdam Reproduction and Development, Amsterdam Movement Sciences, Amsterdam UMC location Vrije Universiteit, Amsterdam, the Netherlands.
Katre MaasaluUniversity of Tartu, Department of Orthopaedics, Tartu, Estonia.
Dimitra MichaDepartment of Human Genetics, Amsterdam Reproduction and Development, Amsterdam Movement Sciences, Amsterdam UMC Location Vrije Universiteit, Amsterdam, the Netherlands.
Lidiia ZhytnikDepartment of Human Genetics, Amsterdam Reproduction and Development, Amsterdam Movement Sciences, Amsterdam UMC Location Vrije Universiteit, Amsterdam, the Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Bruck syndrome type 2 (BRKS2) is a rare disorder marked by congenital joint contractures and bone fragility, caused by variants in PLOD2, which encodes lysyl hydroxylase 2 essential for collagen stability. We report the first genetically confirmed BRKS2 cases from Indonesia and Ukraine, both showing fractures, skeletal deformities, and contractures. The Indonesian patient had compound heterozygous variants, while the Ukrainian patient had a homozygous missense variant, expanding the phenotypic and geographic spectrum of the disorder.

Indexed as

Bone fractureBruck syndromeCongenital bone fragilityLysyl hydroxylase 2PLOD2 gene

Identifiers

PMID42471862
PMCPMC13380098

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.