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Article

Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum.

American journal of medical genetics. Part A - 1 Jun 2022

Otaify Ghada A, Abdel-Hamid Mohamed S, Hassib Nehal F, Elhossini Rasha M, Abdel-Ghafar Sherif F, Aglan Mona S

Abstract excerpt

Bruck Syndrome (BS) is a very rare disorder characterized by osteogenesis imperfecta (OI) associated with congenital contractures and is caused by mutations in FKBP10 or PLOD2 genes. Herein, we describe 13 patients from 9 unrelated Egyptian families with BS. All patients had white sclerae, recurrent fractures, kyphoscoliosis and osteoporosis with variable degrees of severity. Large joint contractures were seen in...

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PMID: 35278031
DOI: 10.1002/ajmg.a.62718

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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