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  • Title: Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature.
    Author: Tipton RE, Gorlin RJ.
    Journal: Am J Med Genet; 1984 Oct; 19(2):209-16. PubMed ID: 6507471.
    Abstract:
    The GAPO syndrome is a rare but distinct autosomal-recessive disorder. The term GAPO is an acronym for the manifestations of Growth retardation. Alopecia, Pseudo- anodontia (failure of tooth eruption), and progressive Optic atrophy. We are aware of five other published patients. All have a strikingly similar appearance. This, along with other distinct manifestations, should allow clear differentiation from other causes of growth retardation. The hypothesis of autosomal-recessive inheritance is based on parental consanguinity and affected sibs in several cases.
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