Lethal multiple pterygium syndrome: three consecutive cases in one family.
We report on three sib fetuses with the lethal multiple pterygium syndrome (LMPS), one case occurring in a twin pregnancy. All three fetuses had a cystic hygroma and hydrops was detected by ultrasound. The classification scheme for LMPS proposed by Hall [1984] is examined. With our present state of knowledge of this syndrome, subdivision on bone-fusion types does not appear to be justified. Antenatal detection by ultrasound is possible in most pregnancies with a second affected fetus because of cystic hygroma and hydrops. In the term or near-term infant in which ultrasound has not shown cystic hygroma or hydrops, a diagnosis of Pena-Shokeir type I syndrome should be considered because pterygia are a component of that syndrome but cystic hygroma and hydrops are not.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D005260:Female; D005313:Fetal Death; D006801:Humans; D011247:Pregnancy; D011625:Pterygium / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome