Diaphragmatic elevation in neonatal myotonic dystrophy.
In two infants born to mothers with myotonic dystrophy, chest roentgenograms showed elevation of the right sides of the diaphragms. These findings aided in the diagnoses of the neonatal form of myotonic dystrophy and the diagnoses were confirmed at autopsy. Diaphragmatic elevation in neonatal myotonic dystrophy is important to differentiate from diaphragmatic abnormalities that may be amenable to surgery. Accurate early diagnosis and appropriate genetic counseling is important in the management of this disorder.
D000293:Adolescent; D000328:Adult; D001344:Autopsy; D003964:Diaphragm / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008297:Male; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D011247:Pregnancy