Your browser doesn't support javascript.
loading
GAPO syndrome (McKusick 23074)--a connective tissue disorder: report on two affected sibs and on the pathologic findings in the older.
Wajntal, A; Koiffmann, C P; Mendonça, B B; Epps-Quaglia, D; Sotto, M N; Rati, P B; Opitz, J M.
Afiliação
  • Wajntal A; Department of Biology, University of São Paulo, Brazil.
Am J Med Genet ; 37(2): 213-23, 1990 Oct.
Article em En | MEDLINE | ID: mdl-2248288
GAPO syndrome was described in 12 patients from 7 families. Constant manifestations include dwarfism, alopecia, pseudoanodontia, and a peculiar, "geriatric" facial appearance. We describe the autopsy findings and all available clinical data on one deceased patient and his living affected sister, previously reported as short abstracts (Epps et al.: Cienc Cult 29(Suppl):740, 1977; Wajntal et al.: Cienc Cult 34(Suppl):705, 1982). Both had the characteristic anomalies of this syndrome but optic atrophy was absent; instead, they had glaucoma and keratoconus; hypogonadism was present in both patients. Biopsy and autopsy findings show that the GAPO syndrome is a dyshistogenetic sequence due to accumulation of extracellular material and thus should be called GAPO dysplasia. We suggest that the basic defect in this autosomal recessive disorder is possibly related to a lack of breakdown of the extracellular components, perhaps due to an enzyme deficiency involved in the metabolism of extracellular matrix.
Assuntos
Buscar no Google
Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Atrofia Óptica / Doenças do Tecido Conjuntivo / Nanismo / Alopecia / Anodontia Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: Am J Med Genet Ano de publicação: 1990 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos
Buscar no Google
Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Atrofia Óptica / Doenças do Tecido Conjuntivo / Nanismo / Alopecia / Anodontia Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: Am J Med Genet Ano de publicação: 1990 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos