GAPO syndrome: three new Brazilian cases, additional osseous manifestations, and review of the literature.

Autor: Goloni-Bertollo EM; Molecular Biology Department, FAMERP-São José do Rio Preto School of Medicine, São José do Rio Preto, SP, Brazil. eny.goloni@famerp.br, Ruiz MT, Goloni CB, Muniz MP, Valério NI, Pavarino-Bertelli EC
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2008 Jun 15; Vol. 146A (12), pp. 1523-9.
DOI: 10.1002/ajmg.a.32157
Abstrakt: The GAPO syndrome is an extremely rare autosomal recessive disease that presents as main characteristics evident growth retardation, alopecia, pseudoanodontia, progressive optic atrophy and a typical face. Until now, only 30 patients have been reported in the medical literature (nine of them from Brazil, including the three cases described in the present article). This study describes three siblings with GAPO syndrome, two female and one male, the children of consanguineous parents (first-degree cousins, inbreeding F = 1/16), who are older than the previously described patients, presenting the characteristic phenotype besides serious bone alterations in the lower limbs, which had not yet been observed.
(2008 Wiley-Liss, Inc.)
Databáze: MEDLINE
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