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We have investigated a mother and son of South African Xhosa stock who presented with short‐trunk dwarfism and kyphoscoliosis. Radiographs show the marked platyspondyly and vertebral irregularity characteristic of brachyolmia. Our patients provide further evidence for the existence of an autosomal dominant form and supports the theory of heterogeneity in this rare group of genetic skeletal disorders. Molecular investigations in this South African family are currently underway but at present the basic defect of brachyolmia remains unknown. © 1994 Wiley‐Liss, Inc.
American Journal of Medical Genetics Part A – Wiley
Published: Jan 1, 1994
Keywords: ; ; ;
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