Gardner J, Beighton P
Department of Human Genetics, University of Cape Town, Medical School, Observatory, South Africa.
Am J Med Genet. 1994 Feb 1;49(3):308-12. doi: 10.1002/ajmg.1320490313.
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 basis defect of brachyolmia remains unknown.
我们研究了一对南非科萨族血统的母子，他们患有短躯干侏儒症和脊柱侧弯。X线片显示出短胸型侏儒症典型的明显扁平椎体和椎体不规则。我们的患者为常染色体显性遗传形式的存在提供了进一步证据，并支持了这一罕见的遗传性骨骼疾病群体存在异质性的理论。目前正在对这个南非家庭进行分子研究，但目前短胸型侏儒症的根本缺陷仍不清楚。
