GAPO syndrome: first Egyptian case with ultrastructural changes in the gingiva.
We report on a 3-year-old boy with growth retardation, alopecia, pseudoanodontia, and optic atrophy. This is the 18th known and the first Egyptian case of GAPO syndrome. Electron microscopic examination of gingival biopsy showed excessive collagen fibres and endothelial vacuolisation, suggesting involvement of extracellular pathological collagenosis.
Meguid
N A
NA
Human Genetics Department, National Research Centre, Cairo, Egypt.
Afifi
H H
HH
Ramzy
M I
MI
Hindawy
A
A
Temtamy
S A
SA
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology*; D000505:Alopecia / Q000473:pathology; D000848:Anodontia / Q000000981:diagnostic imaging* / Q000473:pathology; D002675:Child, Preschool; D004534:Egypt; D005881:Gingiva / Q000000981:diagnostic imaging / Q000648:ultrastructure*; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009896:Optic Atrophy / Q000000981:diagnostic imaging / Q000473:pathology; D011859:Radiography; D013577:Syndrome