The prenatal sono raphic diagnosis of lethal multiple pterygium syndrome: A heritable cause of recurrent abortion

Charles Lockwood*, Mira Irons, John Troiani, Charles Kawada, Anjan Chaudhury, Curtis Cetrulo

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

19 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)474-476
Number of pages3
JournalAmerican journal of obstetrics and gynecology
Volume159
Issue number2
DOIs
StatePublished - 1988
Externally publishedYes

Keywords

  • cystic hygroma
  • habitual abortion
  • hydrocephalus
  • joint contractures
  • Lethal multiple pterygium syndrome

ASJC Scopus subject areas

  • Obstetrics and Gynecology

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