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Congenital myotonic dystrophy with cardiac conduction defect and eventration of the diaphragm
Author(s) -
Kapoor Vishal,
Wright Ian M R
Publication year - 2010
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.2009.02998.x
Subject(s) - kaleidoscope , wright , medicine , myotonic dystrophy , neonatal intensive care unit , doris (gastropod) , intensive care , pediatrics , art history , history , visual arts , art , intensive care medicine , virology
Myotonic dystrophy is an autosomal dominant disorder with variable penetrance. The congenital form of myotonic dystrophy (CMD) is potentially fatal with an estimated incidence of 13 : 100 000. We report a patient illustrating many of the neonatal features of this condition, but also complicated by eventration of the diaphragm and the previously undescribed presence of cardiac conduction defects in the neonatal period