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

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 Br...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2008-06, Vol.146A (12), p.1523-1529
Main Authors: Goloni-Bertollo, Eny Maria, Ruiz, Mariangela Torreglosa, Goloni, Cristina B. Vendrame, Muniz, Marcos Pontes, Valério, Nelson Iguimar, Pavarino-Bertelli, Érika Cristina
Format: Article
Language:English
Subjects:
Adult
alopecia
Alopecia - diagnosis
Alopecia - genetics
Anodontia - diagnosis
Anodontia - genetics
Biological and medical sciences
bone abnormalities
Bone and Bones - abnormalities
Bone and Bones - diagnostic imaging
Brazil
Dermatology
Diseases of visual field, optic nerve, optic chiasma and optic tracts
Facies
Female
GAPO syndrome
Growth Disorders - diagnosis
Growth Disorders - genetics
growth retardation
Hair and nails disorders
Humans
Lower Extremity Deformities, Congenital - diagnosis
Lower Extremity Deformities, Congenital - genetics
Male
Medical genetics
Medical sciences
Middle Aged
Ophthalmology
optic atrophy
Optic Atrophy - diagnosis
Optic Atrophy - genetics
Pedigree
pseudoanodontia
Radiography
Syndrome
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Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.32157