What is Brachyolmia?

Answer 1

Brachyolmia

* Brachyolmia, Hobaek type * Brachyolmia, Maroteaux type * Brachyolmia, Toledo type * Brachyolmia, autosomal dominant type

Brachyolmia is characterized by childhood onset short trunk-short stature and generalized platyspondyly without significant epiphyseal or metaphyseal 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. 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, while all other types are autosomal recessive. Besides these four types there are individual cases that can not be classified at present. Based on the inheritance pattern of each type of brachyolmia, the appropriate genetic counseling can be given. Prenatal diagnosis is not available. There is no specific treatment for any of the types of brachyolmia.*Authors: Prof. M. Shohat and Dr G. J. Halpern (July 2004)*.

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