The prenatal sonographic diagnosis of lethal multiple pterygium syndrome: a heritable cause of recurrent abortion.
Presumably, a large number of recurrent abortions are caused by lethal recessive syndromes whose diagnosis depends either on a known family history or on the identification of characteristic fetal phenotypic features on pathologic examination. Because these conditions are rare, family histories are seldom helpful, and nondirected postmortem examinations on degenerating samples are seldom enlightening. Serial ultrasonography beginning early in pregnancy may provide important information in the evaluation of recurrent abortion caused by lethal recessive disorders. Reported is the accurate prenatal sonographic diagnosis of lethal multiple pterygium syndrome in a patient with a history of recurrent abortions. This syndrome is characterized by multiple limb contractures with pterygia, facial clefting, intracranial abnormalities, cystic hygroma, progressive fetal edema, and fetal death by midgestation. Inheritance may be X-linked recessive. Lethal multiple pterygium syndrome should be considered in patients with a history of recurrent midtrimester losses.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005804:Genes, Lethal; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011625:Pterygium / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome; D014463:Ultrasonography