Prenatal Diagnosis of Congenital Muscular Dystrophy Producing Arthrogryposis

M. L. Socol, R. E. Sabbagha, S. Elias, R. K. Tamura, J. L. Simpson, S. L. Dooley, R. Depp

Research output: Contribution to journalLetterpeer-review

9 Scopus citations

Abstract

To the Editor: We wish to report a midtrimester prenatal diagnosis by ultrasonography of congenital muscular dystrophy producing arthrogryposis. The proband was a 2875-g female infant born at term to healthy, unrelated parents of Northern European origin. The pregnancy had been uncomplicated except for the mother's recollection of the absence of fetal movement. The infant was delivered by cesarean section because of fetal distress. She had Apgar scores of 3 and 4 at one and five minutes, respectively, had multiple external compression deformities and contractures, and died of respiratory failure two hours after birth. At autopsy, skeletal muscle was found.

Original languageEnglish (US)
Number of pages1
JournalNew England Journal of Medicine
Volume313
Issue number19
DOIs
StatePublished - Nov 7 1985

ASJC Scopus subject areas

  • Medicine(all)

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