Fetus with osteogenesis imperfecta presenting as increased nuchal translucency thickness in the first trimester.
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.
Hsieh
Charles Tsung-Che
CT
Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan.
Yeh
Guang-Perng
GP
Wu
Hsin-Hung
HH
Wu
Joung-Liang
JL
Chou
Pan-Hsin
PH
Lin
Yueh-Min
YM
D000328:Adult; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging* / Q000196:embryology; D011247:Pregnancy; D011256:Pregnancy Outcome; D011261:Pregnancy Trimester, First; D016216:Ultrasonography, Prenatal / Q000379:methods*