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Brachyolmia

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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...

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References

  1. Shohat M, Lachman R, Gruber HE, Rimoin DL (1989) Brachyolmia: radiographic and genetic evidence of heterogeneity. Am J Med Genet 33:209–219

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  2. Toledo SP (1992) Spondylar dysplasia (SD)/brachyolmia (BO), type I: search for qualitative anomalies in glycosaminoglycans (GAG). Clin Genet 42:213–214

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  3. Tuysuz B, Ungur S (2003) Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia? Am J Med Genet A 119:375–380

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  4. Mukamel M, Karmazyn B, de Vries L, Horev G, Shohat M (2003) Brachyolmia and spinal stenosis. Am J Med Genet A 120:272–275

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  5. Horton WA, Langers LO, Collins DL, Dwyyer C (1983) Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study. Am J Med Genet 16:201–211

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© 2009 Springer-Verlag GmbH Berlin Heidelberg

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Darcan, S. (2009). Brachyolmia. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_253

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