| Neonatal nemaline myopathy presenting with multiple joint contractures. | |
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MedLine Citation:
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PMID: 2414108 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A sporadic case of the rare and most severe neonatal form of nemaline myopathy is reported. Intrauterine manifestation included reduced fetal movements and breech position with a normal amount of amniotic fluid. After delivery by Caesarian section at 34 weeks of gestation the infant boy, who was not asphyctic, failed to establish spontaneous breathing and required immediate intubation and ventilation. Marked muscular hypotonia and weakness persisted and reflexes remained absent. Hip dislocation, joint contractures, absent palmar creases, prominent lateral palatal ridges and cryptorchidism were interpreted as consequent to prenatal paralysis. The boy died after 5 h due to hyaline membrane disease and meconium aspiration. At autopsy the skeletal muscles were found to be hypoplastic. The muscle fibres contained numerous rods, a typical finding of nemaline myopathy. Nemaline myopathy should be considered in fetuses and newborns with multiple joint contractures, severe muscular weakness and respiratory insufficiency. |
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Authors:
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H U Bucher; E Boltshauser; J Briner |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: European journal of pediatrics Volume: 144 ISSN: 0340-6199 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 1985 Sep |
Date Detail:
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Created Date: 1985-12-18 Completed Date: 1985-12-18 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: GERMANY, WEST |
Other Details:
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Languages: eng Pagination: 288-90 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Arthrogryposis
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pathology* Humans Inclusion Bodies / ultrastructure Infant, Newborn Male Microscopy, Electron Muscles / pathology* Muscular Diseases / congenital*, pathology Staining and Labeling |
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