1 Department of Pediatrics, Cornell University Medical Center, New York
Evidence to support a unifying theory to explain the embryogenesis of numerous midline anomalies, including neural tube defects, has been widely sought.1,2 The impetus for this search has been the finding of certain combinations of these anomalies at incidence rates higher than those predictable by chance,1,2 such as the occurrence of oral clefts with neural tube defects,1 or Hirschprung disease with neuroblastoma.2
To further document the possible midline developmental relationship, we present the first reported case of Hirschprung disease occurring in a patient with meningomyelocele and hydrocephalus.
CASE REPORT
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J Amiel, E Sproat-Emison, M Garcia-Barcelo, F Lantieri, G Burzynski, S Borrego, A Pelet, S Arnold, X Miao, P Griseri, et al. Hirschsprung disease, associated syndromes and genetics: a review J. Med. Genet., January 1, 2008; 45(1): 1 - 14. [Abstract] [Full Text] [PDF] |
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J. Amiel and S. Lyonnet Hirschsprung disease, associated syndromes, and genetics: a review J. Med. Genet., November 1, 2001; 38(11): 729 - 739. [Abstract] [Full Text] [PDF] |
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