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Am J Med Genet. 1990 Sep;37(1):106-8.

The syndrome of Hirschsprung disease, microcephaly, unusual face, and mental retardation.

Author information

1
Division of Medical Genetics, Montreal Children's Hospital, McGill University, Quebec, Canada.

Abstract

Here we report on a boy with Hirschsprung megacolon associated with microcephaly, narrow palpebral fissures, broad nasal bridge, congenital heart defect, cryptorchidism, wide-base gait, short stature, developmental delay and abnormal computed tomography (CT) brain scan. The findings are compared with those of previously described patients with the same syndrome.

PMID:
2240026
DOI:
10.1002/ajmg.1320370125
[Indexed for MEDLINE]
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