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

• Published in: American journal of medical genetics. Part A Vol. 146A; no. 12; pp. 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: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 15-06-2008; Wiley-Liss
• 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; South America; Brazil; America; Hair; Skin disease; Nervous system diseases; Optic nerve atrophy; Optic nerve; pseudoanodontia; Growth retardation; Syndrome; Case study; optic atrophy; Eye disease; bone abnormalities; Cranial nerve disease; Alopecia; Anomaly; Bone; Bibliographic review; GAPO syndrome
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.32157

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.