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.
Verloes
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Centre for Human Genetics, Liège University, CHU Sart Tilman, Belgium.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D001763:Blepharoptosis / Q000175:diagnosis*; D003103:Coloboma / Q000175:diagnosis*; D003937:Diagnosis, Differential; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis*; D008607:Intellectual Disability / Q000175:diagnosis*; D007498:Iris / Q000002:abnormalities; D008297:Male; D009634:Noonan Syndrome / Q000175:diagnosis*; D013577:Syndrome