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

Centre for Human Genetics, Liège University, CHU Sart Tilman, Belgium.
Journal of Medical Genetics (Impact Factor: 6.34). 06/1993; 30(5):425-6. DOI: 10.1136/jmg.30.5.425
Source: PubMed


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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