Autosomal recessive spondylo-epi-metaphyseal dysplasia (Irapa type) in a Mexican family: delineation of the syndrome.
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.
D000293:Adolescent; D002648:Child; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008800:Mexico; D009085:Mucopolysaccharidosis IV / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome