Lethal multiple pterygium syndrome. importance of foetal physical examination

Lethal multiple pterygium syndrome (LMPS) is an autosomal recessive disorder characterized by fetal hy pokinesia wit]h consequent j oint contractures , pterygia and intrauterine death . Retronuchal cystic hygroma and hydrops are frequent as sociated findings [De Die Smulders et al . , 1 9 90] . The pathogenesis of LMPS is still unknown . An abnormal fragile collagen constitu tion [Hartwig et al . , 1 989] and, more recently, a pri mary aplasia of the developing muscle fibers [Moerman et al . , 1 990 ] have been proposed . We report on a case of LMPS in a 22 -week-old fetus of healthy, unrelated parents with a history of fetal death in 2 of 3 former pregnancie s and one normal 6-year-old son .