Brachyolmia (Q86533): Difference between revisions

Brachyolmia is a spondylodysplastic dysplasia characterised by childhood onset short trunk-short stature and generalised platyspondyly without significant epiphyseal or metaphyseal changes in the long bones. There are four main types: The Hobaek type, with short stature mainly limited to the trunk. The Toledo type, probably identical to the Hobaek type but with an abnormal excretion of glycosaminoglycans and peripheral punctate corneal opacities. The Maroteaux type with similar but with irregular and reduced intervertebral spaces and marked extension of the lateral margins of the vertebrae. The autosomal dominant type with symptoms somewhat milder than in the other types.