BRACHYOLMIA - AN AUTOSOMAL-DOMINANT FORM

We have investigated a mother and son of South African Xhosa stock who presented with short-trunk dwarfism and kyphoscoliosis. Radiographs s how the marked platyspondyly and vertebral irregularity characteristic of Brachylaena. Our patients provide further evidence for the existen ce of an autosomal dominant form and supports the theory of heterogene ity in this rare group of genetic skeletal disorders. Molecular invest igations in this South African family are currently underway but at pr esent the basic defect of brachyolmia remains unknown. (C) 1994 Wiley- Liss, Inc.