Sonographic features of lethal multiple pterygium syndrome at 14 weeks
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Min Chen1, Gavin Shueng Wai Chan, Chin Peng Lee
1Prenatal Diagnostic and Counseling Unit, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Sai Ying Pun, Hong Kong, PR China. chenm@hkusua.hku.hk
Lethal multiple pterygium syndrome is a rare inherited disorder. Previous reports suggest that the diagnosis may be based on prenatal sonographic demonstration of severe limb flexion, absence of fetal motion, and a large cystic hygroma in the second and third trimesters. We present the sonographic features and postmortem features of a fetus with lethal multiple pterygium syndrome at 13 weeks of gestation, which shows that the condition can possibly be diagnosed in the first trimester of pregnancy.
Lethal multiple pterygium syndrome is a rare inherited disorder. Previous reports suggest that the diagnosis may be based on prenatal sonographic demonstration of severe limb flexion, absence of fetal motion, and a large cystic hygroma in the second and third trimesters. We present the sonographic features and postmortem features of a fetus with lethal multiple pterygium syndrome at 13 weeks of gestation, which shows that the condition can possibly be diagnosed in the first trimester of pregnancy.
