Autosomal dominant inheritance of spondyloenchondrodysplasia
Copyright policy )Autosomal dominant inheritance of spondyloenchondrodysplasia
AbstractSpondyloenchondrodysplasia comprises generalized enchondromatosis with platyspondyly and is thought to be inherited as an autosomal recessive condition. A mother and son are reported with typical features of spondyloenchondrodysplasia. Their similar radiographic and MRI findings are presented. The radiologic appearance of the spine changed over time, illustrating the evolving phenotype of this condition. Transmission from mother to son suggests that dominant pattern of inheritance is possible. A classification of the enchondromatoses is discussed. © 2005 Wiley‐Liss, Inc.
- University of Alberta Canada
- Greenwood Genetic Center United States
Adult, Family Health, Male, Radiography, Lumbar Vertebrae, Humans, Female, Child, Osteochondrodysplasias, Genes, Dominant
Adult, Family Health, Male, Radiography, Lumbar Vertebrae, Humans, Female, Child, Osteochondrodysplasias, Genes, Dominant
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