Brachyolmia

Brachyolmia refers to a group of autosomal recessive or dominant hereditary skeletal dysplasias exclusively involving the spine. All forms have the onset of abnormalities in childhood, mainly with the trunk dwarfism together. Four main types are distinguished.

1) The Hobaek type: The stature begins in late childhood or early teenage age. The short stature is limited mainly to the trunk.

2) The Toledo type: In terms of skeletal and vertebral changes, the Toledo type is likely to be identical to the Hobaek type, but it is distinguished by abnormal glycosaminoglycan excretion, and patients also have punctate peripheral corneal opacities.

3) The Maroteaux type: This phenotype also manifests in childhood. Characteristic, however, are irregular and narrow intervertebral spaces, considerable lateral expansion of the vertebrae and rounding of the anterior and posterior vertebral walls.

4) The autosomal dominant type: Here the symptoms are not as severe as in the other autosomal recessive types.

The majority of patients suffer from scoliosis or kyphosis.