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J Med Genet. 1988 January; 25(1): 41–43.
PMCID: PMC1015421

Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.


To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. The London Dysmorphology Database was used to determine whether this is a new syndrome.

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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]
  • Pagon RA, Graham JM, Jr, Zonana J, Yong SL. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr. 1981 Aug;99(2):223–227. [PubMed]
  • King MD, Dudgeon J, Stephenson JB. Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation. Arch Dis Child. 1984 Aug;59(8):709–718. [PMC free article] [PubMed]
  • Allanson JE, Hall JG, Hughes HE, Preus M, Witt RD. Noonan syndrome: the changing phenotype. Am J Med Genet. 1985 Jul;21(3):507–514. [PubMed]

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