Horan F T, Beighton P H
J Bone Joint Surg Br. 1978 Feb;60(1):53-5. doi: 10.1302/0301-620X.60B1.342533.
The "osteopetrosis" section of the Fairbank Collection in the Radiology Museum of the Royal National Orthopaedic Hospital contains radiographs and case notes of twenty-two patients. This material has been reviewed in terms of modern concepts in an attempt to obtain a long-term follow-up and a firm diagnosis in each individual. Nine patients proved to have the classical autosomal dominant form of osteopetrosis, four had the malignant autosomal recessive type, craniometaphyseal dysplasia was present in two kindreds and isolated individuals had pyknodysostosis, atypical craniodiaphyseal dysplasia and craniosclerosis with osteopathia striata. As these conditions differ greatly in their clinical and genetic prognoses, diagnostic categorisation is of practical importance.
皇家国立骨科医院放射博物馆的费尔班克藏品中的“骨质石化症”部分包含了22名患者的X光片和病例记录。已根据现代概念对这些资料进行了审查，试图对每个个体进行长期随访并做出明确诊断。结果发现，9名患者患有典型的常染色体显性骨质石化症，4名患有恶性常染色体隐性类型，两个家族中存在颅骨干骺端发育异常，而散发病例有致密性骨发育不全、非典型颅骨骨干发育异常以及伴有条纹状骨病的颅骨硬化症。由于这些病症在临床和遗传预后方面差异很大，因此诊断分类具有实际重要性。
