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J Med Genet. 1993 May; 30(5): 425–426.
PMCID: PMC1016384

Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?


Three children have been reported with a combination of iris coloboma, ptosis, hypertelorism, and growth and mental retardation with possible autosomal recessive inheritance. We report a single case whose clinical features encompass this syndrome and Noonan syndrome, and discuss the possible interpretations of this complex phenotype.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Hall BD. Iris coloboma, ptosis, hypertelorism, and mental retardation. J Med Genet. 1989 Jan;26(1):69–69. [PMC free article] [PubMed]
  • Gollop TR. Fronto-facio-nasal dysostosis - a new autosomal recessive syndrome. Am J Med Genet. 1981;10(4):409–412. [PubMed]
  • Zunich J, Kaye CI. New syndrome of congenital ichthyosis with neurologic abnormalities. Am J Med Genet. 1983 Jun;15(2):331–335. [PubMed]
  • Cotsirilos P, Taylor JC, Matalon R. Dominant inheritance of a syndrome similar to Rubinstein-Taybi. Am J Med Genet. 1987 Jan;26(1):85–93. [PubMed]
  • Gardner RJ, Morrison PS, Abbott GD. A syndrome of congenital thrombocytopenia with multiple malformations and neurologic dysfunction. J Pediatr. 1983 Apr;102(4):600–602. [PubMed]
  • Baraitser M, Winter RM. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. J Med Genet. 1988 Jan;25(1):41–43. [PMC free article] [PubMed]

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