Premium
GAPO syndrome: Three new Brazilian cases, additional osseous manifestations, and review of the literature
Author(s) -
GoloniBertollo Eny Maria,
Ruiz Mariangela Torreglosa,
Goloni Cristina B. Vendrame,
Muniz Marcos Pontes,
Valério Nelson Iguimar,
PavarinoBertelli Érika Cristina
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32157
Subject(s) - growth retardation , disease , medicine , atrophy , pediatrics , dermatology , pathology , genetics , biology , pregnancy
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.