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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: A report of a second patient with this unusual combination
Clinical Dysmorphology, Volume 12, No. 2, Year 2003
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Description
Spondyloenchondromatosis (SEM) is a rare skeletal dysplasia which presents with multiple enchondromata in the metaphyses of the long bones associated with dysplastic vertebral bodies. It is probably heterogeneous. We have investigated and documented a male infant in South Africa with spondyloenchondromatosis and persistent D-2-hydroxyglutaric aciduria (D2HA). D2HA is a neurometabolic disorder whose enzymatic basis is still undefined. A girl in England with a similar clinical, radiological and biochemical phenotype has previously been reported by Talkhani et al. [(2000). Skel Radiol 7:215-292]. There is at present a lack of a plausible pathogenetic relationship between the two components of the disorder but a contiguous gene syndrome or a pleiotropic gene could be considered. Whatever the underlying mechanism this case report confirms its nosological entity. © 2003 Lippincott Williams & Wilkins.
Authors & Co-Authors
Honey, Engela Magdalena
South Africa, Pretoria
University of Pretoria
van Rensburg, M.
South Africa, Pretoria
Wilgers Hospital
Knoll, D. P.
South Africa, Potchefstroom
North-west University
Mienie, L. J.
South Africa, Potchefstroom
North-west University
Van De Werke, I.
South Africa, Pretoria
Kalafong Hospital
Beighton, Peter H.
South Africa, Cape Town
University of Cape Town
Statistics
Citations: 22
Authors: 6
Affiliations: 5
Identifiers
Doi:
10.1097/00019605-200304000-00004
ISSN:
09628827
Research Areas
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Study Locations
South Africa
Participants Gender
Male
Female