Abstract
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.
Full text
PDF
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Baraitser M., Winter R. M. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. J Med Genet. 1988 Jan;25(1):41–43. doi: 10.1136/jmg.25.1.41. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Cotsirilos P., Taylor J. C., Matalon R. Dominant inheritance of a syndrome similar to Rubinstein-Taybi. Am J Med Genet. 1987 Jan;26(1):85–93. doi: 10.1002/ajmg.1320260115. [DOI] [PubMed] [Google Scholar]
- Gardner R. J., Morrison P. S., Abbott G. D. A syndrome of congenital thrombocytopenia with multiple malformations and neurologic dysfunction. J Pediatr. 1983 Apr;102(4):600–602. doi: 10.1016/s0022-3476(83)80198-x. [DOI] [PubMed] [Google Scholar]
- Gollop T. R. Fronto-facio-nasal dysostosis - a new autosomal recessive syndrome. Am J Med Genet. 1981;10(4):409–412. doi: 10.1002/ajmg.1320100415. [DOI] [PubMed] [Google Scholar]
- Hall B. D. Iris coloboma, ptosis, hypertelorism, and mental retardation. J Med Genet. 1989 Jan;26(1):69–69. doi: 10.1136/jmg.26.1.69. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Zunich J., Kaye C. I. New syndrome of congenital ichthyosis with neurologic abnormalities. Am J Med Genet. 1983 Jun;15(2):331-3, 335. doi: 10.1002/ajmg.1320150217. [DOI] [PubMed] [Google Scholar]