Complete Information on Brachyolmia

By: Juliet Cohen

Brachyolmia is a rare form of skeletal dysplasia. Brachyolmia is a form of spondylodysplasia. It is characterized by generalized platyspondyly without significant epiphyseal, metaphyseal, or diaphyseal changes in the long bones. There are four main types: The Hobaek type: short stature commencing in late childhood or early teens. The shortness is mainly limited to the trunk. Signs and symptoms mentioned in various sources for Brachyolmia, recessive Hobaek type includes the 3 symptoms listed short trunk and histological changes on ilear crest.

The Toledo type: probably identical to the Hobaek type with regard to the skeletal and vertebral changes, but patients also have abnormal excretion of glycosaminoglycans and peripheral punctate corneal opacities.

The Maroteaux type: similar phenotype of childhood onset, but with irregular and reduced intervertebral spaces and marked extension of the lateral margins of the vertebrae. Rounding of the anterior and posterior vertebral borders is present. The Autosomal dominant type: symptoms somewhat milder than in the other types. Most cases have scoliosis or kyphosis. This type follows autosomal dominant inheritance. Besides these four types there are individual cases that can not be classified at present. the appropriate genetic counseling can be given. There is no specific treatment for any of the types of brachyolmia.

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