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Article

Prenatal diagnosis of osteogenesis imperfecta type II by three-dimensional computed tomography: the current state of fetal computed tomography.

Congenital anomalies - 1 Dec 2012

Akizawa Yoshika, Nishimura Gen, Hasegawa Tomonobu, Takagi Masaki, Kawamichi Yayoi, Matsuda Yoshio, Matsui Hideo, Saito Kayoko

Abstract excerpt

We report a case of osteogenesis imperfecta (OI) (OMIM166210) type II, in which a prenatal diagnosis was made by three-dimensional computed tomography (3D-CT). Subsequent molecular analysis revealed a recurrent, heterozygous mutation in COL1A2. Fetal CT is a powerful tool for visualizing the fetal skeleton and can provide a definitive diagnosis of fetal skeletal dysplasias; however, whether or not its employment...

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PMID: 23181495
DOI: 10.1111/j.1741-4520.2011.00346.x

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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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