GAPO syndrome: report of three affected brothers.
We present a sibship of three brothers affected with the GAPO syndrome. This is a rare and very characteristic autosomal-recessive trait whose main manifestations are growth retardation, alopecia, pseudo anodontia, and optic atrophy. So far nine affected individuals are known (4 males and 5 females). Two of them, the patient of Andersen and Pindborg cited in Tipton and Gorlin [1983] and one of the cases of Wajntal et al [1982], died at 39 and 37 years respectively.
D000505:Alopecia / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004392:Dwarfism / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D008017:Life Expectancy; D008297:Male; D009066:Mouth, Edentulous / Q000235:genetics*; D009896:Optic Atrophy / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging; D013577:Syndrome