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  • Title: The syndrome of Hirschsprung disease, microcephaly, unusual face, and mental retardation.
    Author: Halal F, Morel J.
    Journal: Am J Med Genet; 1990 Sep; 37(1):106-8. PubMed ID: 2240026.
    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.
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