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)*.
The above was retrieved from www.orpha.net
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