Fatal neonatal nemaline myopathy with multiple congenital anomalies

Rodney D. McComb, William R. Markesbery, William N. O'Connor

Research output: Contribution to journalArticlepeer-review

38 Scopus citations


The clinical course and autopsy findings in a patient with fatal neonatal nemaline myopathy aredescribed. A hypotonic infant required mechanical ventilatory support immediately following delivery and developed progressive congestive heart failure. He had mild facial dysmorphism, a high-arched palate, clinodactyly, short first metacarpals, abnormal dermatoglyphics, simian creases, and bilateral talipes varus. Light and electron microscopic study of a muscle biopsy was diagnostic of nemaline myopathy. Autopsy revealed a papillary muscle anomaly, myocardial scarring, and hepatic fibrosis. The severe clinical impairment in this infant and the unusual associated anomalies are compared with other examples of nemaline myopathy. Nemaline myopathy is a cause of respiratory insufficiency in the neonatal period.

Original languageEnglish (US)
Pages (from-to)47-51
Number of pages5
JournalThe Journal of Pediatrics
Issue number1
StatePublished - Jan 1979
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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