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J Med Genet. 1988 July; 25(7): 494–497.
PMCID: PMC1050528

Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.

Abstract

We describe three children with Hirschsprung's disease and microcephaly, two of whom also have an iris coloboma. Two of the children, one with a coloboma and one without, are from the same consanguineous pedigree. The third case is unrelated and was identified by the matching program of the London Dysmorphology Database. This is the first report of this combination of features which are considered to be secondary to defective neuronal migration. An autosomal recessive mode of inheritance is proposed.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Winter RM, Baraitser M, Douglas JM. A computerised data base for the diagnosis of rare dysmorphic syndromes. J Med Genet. 1984 Apr;21(2):121–123. [PMC free article] [PubMed]
  • Omenn GS, McKusick VA. The association of Waardenburg syndrome and Hirschsprung megacolon. Am J Med Genet. 1979;3(3):217–223. [PubMed]
  • Shah KN, Dalal SJ, Desai MP, Sheth PN, Joshi NC, Ambani LM. White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome. J Pediatr. 1981 Sep;99(3):432–435. [PubMed]
  • Farndon PA, Bianchi A. Waardenburg's syndrome associated with total aganglionosis. Arch Dis Child. 1983 Nov;58(11):932–933. [PMC free article] [PubMed]
  • Liang JC, Juarez CP, Goldberg MF. Bilateral bicolored irides with Hirschsprung's disease. A neural crest syndrome. Arch Ophthalmol. 1983 Jan;101(1):69–73. [PubMed]

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