Autosomal Recessive. Spondylo‐epi‐metaphyseal dysplasia (Irapa type) in a Mexican family: Delineation of the syndrome
- 1 January 1980
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 5 (2) , 179-188
- https://doi.org/10.1002/ajmg.1320050212
Abstract
Three sibs from a Mexican mestizo family affected with a spondylo‐epi‐metaphyseal dysplasia were studied. The clinical, radiological, and genetic findings were similar to those previously described in Venezuelan Indians of the Irapa tribe. The present patients permit confirmation of the syndrome and provide evidence for autosomal recessive inheritance. Genetic drift is postulated.Keywords
This publication has 1 reference indexed in Scilit:
- Spondyloepiphyseal Dysplasia CongenitaRadiology, 1970