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Dysmorphology of Barth syndrome

Hastings, Roba; Steward, Colinb; Tsai-Goodman, Beverlyc; Newbury-Ecob, Rutha

doi: 10.1097/MCD.0b013e32832a9e62

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.

Departments of aClinical Genetics

bOncology/Bone Marrow Transplantation

cPaediatric Cardiology, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, UK

Correspondance to Dr Ruth Newbury-Ecob, Department of Clinical Genetics, St Michael's Hospital, Southwell Street, Bristol BS2 8EG, UK

Tel: +44 117 9285107; fax: +44 117 9285108;


Received 7 December 2008 Accepted 19 February 2009

© 2009 Lippincott Williams & Wilkins, Inc.