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 inv...

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Veröffentlicht in:	Clinical genetics 1997-08, Vol.52 (2), p.110-115
Hauptverfasser:	Meguid, Nagwa A., Afifi, Hanan H., Ramzy, Magda I., Hindawy, Amina, Temtamy, Samia A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnostic imaging Abnormalities, Multiple - pathology Alopecia - pathology Anodontia - diagnostic imaging Anodontia - pathology Arab descent Biological and medical sciences Child, Preschool Complex syndromes Egypt extracellular collagenosis first Egyptian case GAPO syndrome Gingiva - diagnostic imaging Gingiva - ultrastructure gingival biopsy Growth Disorders - pathology Humans Magnetic Resonance Imaging Male Medical genetics Medical sciences ocular manifestation Optic Atrophy - diagnostic imaging Optic Atrophy - pathology Radiography Syndrome Tropical medicine
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Beschreibung
Zusammenfassung:	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.
ISSN:	0009-9163 1399-0004
DOI:	10.1111/j.1399-0004.1997.tb02527.x