Brachyolmia

Synonyms

Platyspondyly

Definition and Characteristics

It is a skeletal dysplasia that is characterized clinically by short-trunk short stature and radiographically by generalized platyspondyly without significant long bone and skull abnormalities. There are four different types based on vertebral shape, associated features, and mode of inheritance.

Genes

The basis defect of brachyolmia remains unknown. Clinical, radiological, and genetic differences suggest genetic heterogeneity in this group of platyspondylic disorders.

Molecular and Systemic Pathophysiology

Qualitative abnormal excretion of glycosaminoglycans is described in some patients. As a likely etiology, a disturbance in chondroitin sulfate synthesis is suggested. Horton et al. found that the growth plate was shorter than normal, and the usual chondrocyte columns were replaced by a few rounded clusters of hypertrophic and degenerative chondrocytes separated by wide matrix septa on the growth plate of iliac crest biopsy.

Diagnos...