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Diaphragmatic Elevation in Neonatal Myotonic Dystrophy FREE

Albert E. Chudley, MD; Mamdouha A. Barmada, MD
[+] Author Affiliations

Reprint requests to Department of Pediatrics, Ellis Hall, Room 515, University Hospital, Saskatoon, Saskatchewan, Canada S7N OW8 (Dr Chudley).


Am J Dis Child. 1979;133(11):1182-1185. doi:10.1001/archpedi.1979.02130110090018.
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• 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.

(Am J Dis Child 133:1182-1185, 1979)

REFERENCES

Bell DB, Smith DW:  Myotonic dystrophy in the neonate . J Pediatr 81:83-86, 1972;.
Bossen EH, Shelburne JD, Verkauf BS:  Respiratory muscle involvement in infantile myotonic dystrophy . Arch Pathol 97:250-252, 1974;.
Swift TR, Ignacio OJ, Dyken PR:  Neonatal dystrophia myotonica . Am J Dis Child 129:734-737, 1975;.
Aicardi J, Conti D, Goutières F:  Les formes nèo-natales de la dystrophie myotonique de Steinert . J Neurol Sci 22:149-164, 1974;.
Harper PS:  Congenital myotonic dystrophy in Britain: I. Clinical aspects . Arch Dis Child 50:505-513, 1975;.
Dodge PR, Gamstorp I, Byers RK, et al:  Myotonic dystrophy in infancy and childhood . Pediatrics 35:3-19, 1965;.
Caughey JE, Pachomov N:  The diaphragm in dystrophia myotonica . J Neurol Neurosurg Psychiatry 22:311-313, 1959;.
Swash M:  The morphology and innervation of the muscle spindle in dystrophia myotonica . Brain 95:357-368, 1972;.
Carroll JE, Brooke MH, Kaiser K:  Diagnosis of infantile myotonic dystrophy . Lancet 2:608, 1975;.
Moore MJ, Rebeiz JJ, Holden M, et al:  Biometric analyses of normal skeletal muscle . Acta Neuropathol 19:51-69, 1971;.
Farkas E, Tomé FM, Fardeau M, et al:  Histochemical and ultrastructural study of muscle biopsies in three cases of dystrophia myotonica in the newborn child . J Neurol Sci 21:273-288, 1974;.
Shore RN:  Myotonic dystrophy: Hazards of pregnancy and infancy . Dev Med Child Neurol 17:356-361, 1975;.
Dyken PR, Harper PS:  Congenital dystrophia myotonica . Neurology 23:465-473, 1973;.
Harper PS:  Congenital myotonic dystrophy in Britain: II. Genetic basis . Arch Dis Child 50:514-521, 1975;.
Becroft DMO:  Prenatal cytomegalovirus infection and muscular deficiency (eventration) of the diaphragm . J Pediatr 94:74-75, 1979;.
Hutchinson JR, Dyken PR, McKusick VA:  Genetic linkage confirmed between the locus for myotonic dystrophy and the ABH-secretion and Lutheran blood group loci . Am J Hum Genet 24:310-316, 1972;.
Schrott HG, Karp K, Omenn GS:  Prenatal prediction in myotonic dystrophy: Guidelines for genetic counseling . Clin Genet 4:38-45, 1973;.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

References

Bell DB, Smith DW:  Myotonic dystrophy in the neonate . J Pediatr 81:83-86, 1972;.
Bossen EH, Shelburne JD, Verkauf BS:  Respiratory muscle involvement in infantile myotonic dystrophy . Arch Pathol 97:250-252, 1974;.
Swift TR, Ignacio OJ, Dyken PR:  Neonatal dystrophia myotonica . Am J Dis Child 129:734-737, 1975;.
Aicardi J, Conti D, Goutières F:  Les formes nèo-natales de la dystrophie myotonique de Steinert . J Neurol Sci 22:149-164, 1974;.
Harper PS:  Congenital myotonic dystrophy in Britain: I. Clinical aspects . Arch Dis Child 50:505-513, 1975;.
Dodge PR, Gamstorp I, Byers RK, et al:  Myotonic dystrophy in infancy and childhood . Pediatrics 35:3-19, 1965;.
Caughey JE, Pachomov N:  The diaphragm in dystrophia myotonica . J Neurol Neurosurg Psychiatry 22:311-313, 1959;.
Swash M:  The morphology and innervation of the muscle spindle in dystrophia myotonica . Brain 95:357-368, 1972;.
Carroll JE, Brooke MH, Kaiser K:  Diagnosis of infantile myotonic dystrophy . Lancet 2:608, 1975;.
Moore MJ, Rebeiz JJ, Holden M, et al:  Biometric analyses of normal skeletal muscle . Acta Neuropathol 19:51-69, 1971;.
Farkas E, Tomé FM, Fardeau M, et al:  Histochemical and ultrastructural study of muscle biopsies in three cases of dystrophia myotonica in the newborn child . J Neurol Sci 21:273-288, 1974;.
Shore RN:  Myotonic dystrophy: Hazards of pregnancy and infancy . Dev Med Child Neurol 17:356-361, 1975;.
Dyken PR, Harper PS:  Congenital dystrophia myotonica . Neurology 23:465-473, 1973;.
Harper PS:  Congenital myotonic dystrophy in Britain: II. Genetic basis . Arch Dis Child 50:514-521, 1975;.
Becroft DMO:  Prenatal cytomegalovirus infection and muscular deficiency (eventration) of the diaphragm . J Pediatr 94:74-75, 1979;.
Hutchinson JR, Dyken PR, McKusick VA:  Genetic linkage confirmed between the locus for myotonic dystrophy and the ABH-secretion and Lutheran blood group loci . Am J Hum Genet 24:310-316, 1972;.
Schrott HG, Karp K, Omenn GS:  Prenatal prediction in myotonic dystrophy: Guidelines for genetic counseling . Clin Genet 4:38-45, 1973;.

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