Abstract:
:Autopsy studies of three premature siblings who died soon after birth with the neonatal myotonic dystrophy syndrome revealed pulmonary hypoplasia and congenital pleural effusions. Neither of these findings has been described previously in this condition. New ultrastructural findings include focal diaphragmatic myofiber degeneration and necrosis, which were attributed to over-stretching of the fetal diaphragm. In addition, abnormally small stores of free and intravesicular glycogen were observed in skeletal muscle fibers. The morphometric features of control fetal and neonatal skeletal muscle were recorded for comparison with muscle fiber measurements in the three infants. Fiber diameters in the latter were much smaller than expected for body weights. The morphologic and morphometric findings support the concept that fetal muscle maturation is severely retarded in this syndrome.
journal_name
Hum Patholjournal_title
Human pathologyauthors
Silver MM,Vilos GA,Silver MD,Shaheed WS,Turner KLdoi
10.1016/s0046-8177(84)80312-3subject
Has Abstractpub_date
1984-12-01 00:00:00pages
1171-82issue
12eissn
0046-8177issn
1532-8392pii
S0046-8177(84)80312-3journal_volume
15pub_type
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