Beighton P, Hamersma H
S Afr Med J. 1980 Oct 11;58(15):600-4.
Sclerosing bone dysplasias are a group of unusual disorders with important and frequently lethal complications. During the past 8 years more than 80 patients with disorders of this type have been investigated in the Department of Human Genetics, University of Cape Town. It has emerged that a condition in this category 'sclerosteosis', has a high prevalence in individuals of Afrikaner stock and more than 40 affected patients have been studied. Other conditions which have been investigated during this survey include various types of osteopetrosis, pycnodysostosis and craniometaphyseal dysplasia. In each, specific radiographic features facilitate the diagnostic precision which is crucial for effective prognostication and management. Orthopaedic complications are an important aspect of these disorders.
骨硬化发育异常是一组罕见的疾病，伴有重要且常常致命的并发症。在过去8年里，开普敦大学人类遗传学系对80多名患有此类疾病的患者进行了研究。现已发现，这一类别中的“骨硬化症”在阿非利卡人群体中具有较高的患病率，并且已经对40多名受影响的患者进行了研究。在本次调查中研究的其他疾病包括各种类型的骨石化症、致密性骨发育不全和颅骨干骺端发育异常。在每种疾病中，特定的放射学特征有助于提高诊断的准确性，这对于有效的预后评估和治疗至关重要。骨科并发症是这些疾病的一个重要方面。
