Title

Congenital myotonic dystrophy with cardiac conduction defect and eventration of the diaphragm

RIS ID

89879

Publication Details

Kapoor, V. & Wright, I. M. R. (2010). Congenital myotonic dystrophy with cardiac conduction defect and eventration of the diaphragm. Pediatrics International, 52 (1), e6-e8.

Abstract

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 : 100 000.1 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.

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Link to publisher version (DOI)

http://dx.doi.org/10.1111/j.1442-200X.2009.02998.x