The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient. Evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23?
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D016569:Blepharophimosis / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3; D004392:Dwarfism / Q000235:genetics*; D006801:Humans; D008297:Male