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Article

Expanding the phenotype of Bruck syndrome: Severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage.

American journal of medical genetics. Part A - 1 Jan 2023

Sandy Jessica L, Perez Darazel, Goh Shuxiang, Forsey Jonathan, Rajagopalan Sulekha, Trivedi Amit, Munns Craig F

Abstract excerpt

Bruck syndrome is a rare collagen disorder with autosomal recessive inheritance caused by pathogenic variants in either FKBP10 or PLOD2 genes. It is characterized by bone fragility and fractures similar in severity and variability to osteogenesis-imperfecta as well as congenital joint contractures. This article describes an infant with a homozygous (partial) gene deletion of PLOD2 that includes the start codon...

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Identifiers

PMID: 36282022
DOI: 10.1002/ajmg.a.63007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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