Prenatal diagnosis of osteogenesis imperfecta type II by three‐dimensional computed tomography: The current state of fetal computed tomography

ABSTRACT 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 th...

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Veröffentlicht in:	Congenital anomalies 2012-12, Vol.52 (4), p.203-206
Hauptverfasser:	Akizawa, Yoshika, Nishimura, Gen, Hasegawa, Tomonobu, Takagi, Masaki, Kawamichi, Yayoi, Matsuda, Yoshio, Matsui, Hideo, Saito, Kayoko
Format:	Artikel
Sprache:	eng
Schlagworte:	Abortion, Induced Adult Birth defects Collagen Type I - genetics Female Four-Dimensional Computed Tomography genetic counseling Humans Mutation Osteogenesis Imperfecta - diagnostic imaging Osteogenesis Imperfecta - genetics osteogenesis imperfecta type II Pregnancy Prenatal Diagnosis skeletal dysplasia three‐dimensional computed tomography Tomography Ultrasonography
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