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Article

[Update on prenatal diagnosis of osteogenesis imperfecta type II : an index case report diagnosed by ultrasonography in the first trimester].

Journal de gynecologie, obstetrique et biologie de la reproduction - 1 Nov 2002

Buisson O, Senat M V, Laurenceau N, Ville Y

Abstract excerpt

INTRODUCTION: A case of osteogenesis imperfecta type II diagnosed in the first trimester of pregnancy. DISCUSSION: Lethal osteogenesis imperfecta is a disorder characterized by collagen abnormalities resulting in dwarfism, bone fragility and deformity leading to death in utero or in the perinatal period. Molecular and biochemical studies demonstrate that OI type II results from mutations in either COL1 A1 or COL1...

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PMID: 12457140

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

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Current Overview of Osteogenesis Imperfecta.Semantic proximity Read ↗

Mutation Analysis of COL1A1 and COL1A2 in Fetuses with Osteogenesis Imperfecta Type II/III.Semantic proximity Read ↗

Prenatal diagnosis of type II osteogenesis imperfecta, describing a new mutation in the COL1A1 gene.Semantic proximity Read ↗

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Osteogenesis Imperfecta Type VIII in Prenatal Screening: A Case Report Emphasizing the Importance of Early Diagnosis and Genetic CounselingSemantic proximity Read ↗

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