title: [Maxillo-facial abnormalities in Kearns-Sayre syndrome].
abstract: Three cases of Kearns-Sayre Syndrome are reported, in which some facial anomalies, including facial asymmetry, high forehead, wide nasal bridge, upturned nose, flat philtrum, low set ears and short neck were present. In two cases, the diagnosis of oxidative phosphorylation deficiency was confirmed by hystoenzymatic and genetic studies. The relationship of these facial anomalies with neural crest maldevelopment is emphasized and a classification of the Kearns-Sayre Syndrome as metabolic neurocristopathy is proposed. The facial anomalies are suggestive of an antenatal expression of the oxidative phosphorylation disease.
authors.affiliation: Cattedra di Pediatria, Universìtà di Genova.
authors.forename: A
authors.initials: A
authors.lastname: Piazzi
authors.forename: A
authors.initials: A
authors.lastname: Berio
mesh_terms: D000293:Adolescent; D001921:Brain / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D005315:Fetal Diseases; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics* / Q000378:metabolism*; D008297:Male; D019767:Maxillofacial Abnormalities; D028361:Mitochondrial Diseases / Q000196:embryology; D017354:Point Mutation / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial