Ontology highlight
ABSTRACT:
SUBMITTER: Rodriguez CA
PROVIDER: S-EPMC4001954 | biostudies-literature | 2012 Jul
REPOSITORIES: biostudies-literature
Rodríguez Carlos A CA Isaza Carolina C Pachajoa Harry H
Colombia medica (Cali, Colombia) 20120701 3
<h4>Introduction</h4>Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, genu varum, and trident hand. Although the etiology of this disease was reported in 1994, evidence of this disease in ancient populations has been found in populations of ancient Egypt (2500 BC) and it has been documented in ancient American populations.<h4 ...[more]