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Am J Med Genet. 1993 Aug 1;47(1):37-40.

Congenital muscular dystrophy with neurological abnormalities: association with Hirschsprung disease.

Author information

1
Department of Pediatrics, Rambam Medical Center, Haifa, Israel.

Abstract

We report on a baby girl with congenital muscular dystrophy (CMD) with neurological abnormalities ("CMD Plus" condition), who also had Hirschsprung disease. This association may indicate a category of congenital muscular dystrophy with involvement of the visceral nervous system. We propose that Hirschsprung disease be added to the list of anomalies pertaining to the "CMD Plus" array, and that CMD should be considered when Hirschsprung disease occurs with central nervous system anomalies.

PMID:
8368249
DOI:
10.1002/ajmg.1320470108
[Indexed for MEDLINE]

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