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Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2.

F1000Research - 1 Jan 2023

Peláez Chomba Melissa Sindy, Vásquez Gómez Guillermo Raúl, Sullcahuaman Allende Yasser Ciro, Mendoza Fernández Julio Cesar, Purizaca Rosillo Nelson David, Zevallos Alejandra, Cruzate Cabrejos Vicente Leandro

Abstract excerpt

Osteogenesis imperfecta is considered a rare genetic condition which is characterized by bone fragility. In 85% of cases, it is caused by mutations in COL1A1 and COL1A2 genes which are essential to produce type I collagen. We report the case of a female neonate delivered to a 27-year-old women at San Bartolomé Teaching Hospital with a family history of clavicle fracture. A prenatal control with ultrasound was...

Topics

Humans
Pregnancy
Infant, Newborn
Female
Adult
Collagen Type I
Osteogenesis Imperfecta
Mutation
Prenatal Diagnosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37829592
DOI: 10.12688/f1000research.131094.2
PMCID: PMC10565417

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2.PMID 37829592Read ↗

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