Dysmorphology of Barth syndrome

Clinical Dysmorphology

Volumn 18, Issue 4, 2009, Pages 185-187

  Hastings, Rob ^a   Steward, Colin ^a   Tsai Goodman, Beverly ^a   Newbury Ecob, Ruth ^a  

^a BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

Author keywords

3 methylglutaconic aciduria; Barth syndrome; Cardiolipin; Cardiomyopathy; Dysmorpholgy; Mitochondria; Tafazzin; X linked

Indexed keywords

3 METHYLGLUTACONIC ACID; CARDIOLIPIN; GRANULOCYTE COLONY STIMULATING FACTOR; TAFAZZIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BARTH SYNDROME; CARDIOMYOPATHY; CHILD; CHILD GROWTH; CHROMOSOME XQ; CLINICAL ARTICLE; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; GENE MUTATION; HEART MITOCHONDRION; HEART MUSCLE; HUMAN; MALE; MITOCHONDRIAL MEMBRANE; MYOPATHY; NEUTROPENIA; PRIORITY JOURNAL; SKELETAL MUSCLE; X CHROMOSOME RECESSIVE DISORDER; INFANT; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PRESCHOOL CHILD; SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CHILD, PRESCHOOL; HUMANS; INFANT; MALE; SYNDROME;

EID: 70449719353     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32832a9e62     Document Type: Article

References (7)

1. Barth PG, Scholte HR, Berden JA, Van der Klei-Van Moorsel JM, Luyt-Houwen IEM, Van't Veer-Korthof ET, et al. (1983). An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci 62:327-355.
2. Barth PG, Valianpour F, Bowen VM, Lam J, Duran M, Vaz FM, Wanders RJA (2004). X-linked cardioskeletal myopathy and neutropaenia (Barth syndrome): an update. Am J Med Genet 126A:349-354.
3. Kelley RI, Cheatham JP, Clark BJ, Nigro MA, Powell BR, Sherwood GW, et al. (1991). X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediatr 119:738-747.
4. KulikW, van Lenthe H, Stet FS, Houtkooper RH, Kemp H, Stone JE, et al. (2008). Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome. Clin Chem 54:371-378.
5. Mazzocco MM, Henry AE, Kelley RI (2007). Barth syndrome is associated with a cognitive phenotype. J Dev Behav Pediatr 28:22-30.
6. Spencer CT, Bryant RM, Day J, Gonzalez IL, Colan SD, Thompson WR, et al. (2006). Cardiac and clinical phenotype in Barth syndrome. J Pediatr 118:337-346.
7. Valianpour F, Wanders RJA, Barth PG, Overmars H, van Gennip AH (2002). Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients. Clin Chem 48:1390-1397.