Lethal multiple pterygium syndrome: Three consecutive cases in one family

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Abstract
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.