Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: A report of a second patient with this unusual combination

Clinical Dysmorphology

Volumn 12, Issue 2, 2003, Pages 95-99

  Honey, E M ^a   Van Rensburg, M ^b   Knoll, D P ^c   Mienie, L J ^c   Van De Werke, I ^d   Beighton, P ^e  

^a UNIVERSITY OF PRETORIA   (South Africa)

^b Wilgers Hospital   (South Africa)

^c NORTH WEST UNIVERSITY   (South Africa)

^d UNIVERSITY OF PRETORIA   (South Africa)

^e UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

D 2 hydroxyglutaric aciduria; Genetic; Skeletal; Spondyloenchondromatosis

Indexed keywords

DEXTRO 2 HYDROXYGLUTARIC ACID; GLUTARIC ACID DERIVATIVE; UNCLASSIFIED DRUG;

AMINOACIDURIA; ARTICLE; BONE DYSPLASIA; CASE REPORT; CHONDROMATOSIS; HUMAN; INFANT; MALE; METABOLIC DISORDER; METAPHYSIS; PATHOGENESIS; PHENOTYPE; PLEIOTROPY; PRIORITY JOURNAL; SOUTH AFRICA; SPONDYLOENCHONDROMATOSIS;

ARM; BRAIN; ENCHONDROMATOSIS; GLUTARATES; HUMANS; INFANT; LEG; LUMBAR VERTEBRAE; MAGNETIC RESONANCE IMAGING; MALE; SCAPULA;

EID: 0037880585     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200304000-00004     Document Type: Article

References (13)

1. Baker NS, Sarnat HB, Jack RM, Patterson K, Shaw DW, Herndon SP (1997). D-2-hydroxyglutaric aciduria: hypotonia, cortical blindness, seizures, cardiomyopathy, and cylindrical spirals in skeletal muscles. J Clin Neurol 12:31-26.
2. Frydman M, Bar-Ziv J, Preminger-Shapiro R, Brezner A, Brand N, Ben-Ami T, Lachman RS, Gruber HE, Rimoin DL (1990). Possible heterogeneity in spondyloenchondrodysplasia: quadriparesis, basal ganglia calcifications, and chondrocyte inclusions. Am J Med Genet 36:279-284.
3. Menger H, Kruse K, Spranger J (1989). Spondyloenchondrodysplasia. J Med Genet 26:93-99.
4. Nyhan WL, Shelton GD, Jakobs C, Holmes B, Bowe C, Curry CJR, Vance C, Duran M, Sweetman L (1995). D-2-hydroxyglutaric aciduria. J Child Neurol 10:137-142.
5. Sauvegrain J, Maroteaux P, Ribier J, Garel L, Tato L, Rochiccioli P, De Magalhaes J, Duhamel B (1980). Chondromes multiples avec atteinte rachidienne: spondylo-enchondroplasie et autres formes. J Radiol 61:495-501.
6. Schorr S, Legum C, Ochshorn M (1976). Spondyloenchondrodysplasia; enchondromatosis with severe platyspondyly in two brothers. Radiology 118:133-139.
7. Spranger J, Kemperdieck H, Bakowski H, Opitz JM (1978). Two peculiar types of enchondromatosis. Pediatr Radiol 7:215-219.
8. Talkhani IS, Saklatvala J, Dwyer J (2000). D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis. Skel Radiol 29:289-292.
9. Van Creveld S, Kozlowski K, Pietron K, van der Valk A (1971). Metaphyseal chondrodysplasia calcificans: a report of two cases. Br J Radiol 44:773-779.
10. Van der Knaap M, Jakobs C, Hoffmann G, Duran M, Muntau A, Schweitzer S, Kelley R, Parrot-Roulaud F, Amiel J, De Lonlay P, Rabier D, Egg-Olofsson O (1999). D-2- Hydroxyglutaric aciduria: Further clinical delineation. J Inher Metab Dis 22:404-413.
11. Van Rooyen JP, Mienie LJ, Erasmus E, De Wet WJ, Ketting D, Duran M, Wadman SK (1994). Identification of stereoisomeric configurations of methylcitric acid produced by si-citrate synthase and methylcitrate synthase using capillary gas chromatography-mass spectrometry. J Inher Metab Dis 17(6):738-747.
12. Wallis CE, Cremin BJ, Beighton PH (1989). Enchondromatosis with dwarfism and deafness. Dysmorphol Clin Gen 3(4):108-111.
13. Zack P, Beighton P (1995). Spondyloenchondromatosis: syndromic identity and evolution of the phenotype. Am J Med Genet 55:478-482.