title: An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency.
abstract: We report the case of a 16-month-old male with the neonatal appearance of Marfan syndrome (NMS), with dolichocephaly, a long midface, deep-set eyes, arachnodactyly, dislocated lenses and carciovascular abnormalities. The presence of persistent lactic acidosis led to studies which disclosed mitochondrial complex I deficiency. We speculate that this unusual association may be due to the combination of an inherited mutation affecting complex I activity along with a de novo mutation disrupting the corresponding locus and an adjacent NMS locus on the homologous autosome. The possibility that the phenotype observed in this patient is directly due to the mitochondrial defect cannot be excluded.
authors.affiliation: Division of Clinical Genetics, Hospital for Sick Children, Toronto, Canada.
authors.forename: J
authors.initials: J
authors.lastname: Christodoulou
authors.forename: R
authors.initials: R
authors.lastname: Petrova-Benedict
authors.forename: B H
authors.initials: BH
authors.lastname: Robinson
authors.forename: V
authors.initials: V
authors.lastname: Jay
authors.forename: J T
authors.initials: JT
authors.lastname: Clarke
mesh_terms: D042967:Electron Transport Complex I; D006801:Humans; D007223:Infant; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000201:enzymology / Q000209:etiology / Q000235:genetics; D008931:Mitochondria, Muscle / Q000473:pathology; D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency*; D010641:Phenotype
chemical_list: D009247:NADH, NADPH Oxidoreductases; D042967:Electron Transport Complex I