title: Dysmorphology of Barth syndrome.
abstract: Barth syndrome is an X-linked recessive condition caused by defective remodelling of cardiolipins in mitochondrial membranes because of mutations in the tafazzin (TAZ1/G4.5) gene located at Xq28. The cardinal features of Barth syndrome are cardiac and skeletal myopathy and neutropaenia, reported in the initial description of this condition by Barth et al. (J Neurol Sci 62:327-355) in 1983. Many features of the Barth phenotype have been described but there is no published comment on the facial appearance of these boys, which is consistent and characteristic of this condition.
authors: Departments of Clinical Genetics, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, UK.
authors: Rob
authors: R
authors: Hastings
authors: Colin
authors: C
authors: Steward
authors: Beverly
authors: B
authors: Tsai-Goodman
authors: Ruth
authors: R
authors: Newbury-Ecob
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome