Spondyloperipheral dysplasia
- 6 November 1995
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 59 (2) , 139-142
- https://doi.org/10.1002/ajmg.1320590204
Abstract
We present a patient with spondyloperipheral dysplasia, a rare skeletal dysplasia which is characterized by vertebral body abnormalities (platyspondyly, end‐plate indentations) and brachydactyly. Our patient also manifested a characteristic “pugilistic” face, sensorineural deafness and mental retardation. This chondroosseous dysplasia appears to be inherited as an autosomal dominant disorder. It appears that there is considerable clinical variability in spondyloperipheral dysplasia.Keywords
This publication has 3 references indexed in Scilit:
- Unique skeletal dysplasia with absence of the distal ulnaeAmerican Journal of Medical Genetics, 1987
- Spondyloepiphyseal dysplasia.Journal of Medical Genetics, 1983
- Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal‐ spondyloperipheral dysplasiaClinical Genetics, 1979