Fatal neonatal nemaline myopathy with multiple congenital anomalies

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

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

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
Volume94
Issue number1
DOIs
StatePublished - Jan 1979

Fingerprint

Nemaline Myopathies
Autopsy
Metacarpal Bones
Papillary Muscles
Palate
Dermatoglyphics
Respiratory Insufficiency
Cicatrix
Fibrosis
Heart Failure
Electrons
Biopsy
Light
Muscles
Liver

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Fatal neonatal nemaline myopathy with multiple congenital anomalies. / McComb, Rodney D.; Markesbery, William R.; O'Connor, William N.

In: The Journal of Pediatrics, Vol. 94, No. 1, 01.1979, p. 47-51.

Research output: Contribution to journalArticle

McComb, Rodney D. ; Markesbery, William R. ; O'Connor, William N. / Fatal neonatal nemaline myopathy with multiple congenital anomalies. In: The Journal of Pediatrics. 1979 ; Vol. 94, No. 1. pp. 47-51.
@article{c08dec0c208a4134bcac7e89661e3c0d,
title = "Fatal neonatal nemaline myopathy with multiple congenital anomalies",
abstract = "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.",
author = "McComb, {Rodney D.} and Markesbery, {William R.} and O'Connor, {William N.}",
year = "1979",
month = "1",
doi = "10.1016/S0022-3476(79)80348-0",
language = "English (US)",
volume = "94",
pages = "47--51",
journal = "Journal of Pediatrics",
issn = "0022-3476",
publisher = "Mosby Inc.",
number = "1",

}

TY - JOUR

T1 - Fatal neonatal nemaline myopathy with multiple congenital anomalies

AU - McComb, Rodney D.

AU - Markesbery, William R.

AU - O'Connor, William N.

PY - 1979/1

Y1 - 1979/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0018330470&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0018330470&partnerID=8YFLogxK

U2 - 10.1016/S0022-3476(79)80348-0

DO - 10.1016/S0022-3476(79)80348-0

M3 - Article

C2 - 758421

AN - SCOPUS:0018330470

VL - 94

SP - 47

EP - 51

JO - Journal of Pediatrics

JF - Journal of Pediatrics

SN - 0022-3476

IS - 1

ER -