Ultrasound Research Today is a free monthly online journal that collates and summarizes the latest research about Ultrasound, including details on screening, diagnosis, pregnancy, detection.

Fetus with osteogenesis imperfecta presenting as increased nuchal translucency thickness in the first trimester.

Hsieh CT, Yeh GP, Wu HH, Wu JL, Chou PH, Lin YM

Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan.

Type II osteogenesis imperfecta (OI) is a perinatally lethal disorder due to type I collagen abnormalities that has been diagnosed successfully in the second trimester. We report a case of type II OI that was confirmed on postmortem histology and radiography presenting as increased nuchal translucency in the first trimester.

Published 8 January 2008 in J Clin Ultrasound, 36(2): 119-22.
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