Spranger J, Cremin B, Beighton P
Pediatr Radiol. 1982;12(1):21-7. doi: 10.1007/BF01221706.
The clinical and radiographic features of 47 cases of neonatally manifest osteogenesis imperfecta were analyzed. A scoring system was devised to code the degree of skeletal changes. A score of 2.7 and more carried a prospective mortality of 88%. Scores of 2.6 and less were associated with a survival rate of 90%. The prognosis was particularly favourable in a subgroup of patients characterized by marked bowing of the lower extremities, mild involvement of the rest of the skeleton and white sclerae. Neonates with these features tended to have a good long-term prognosis, with few additional fractures and partial or total spontaneous resolution of the limb deformity. The study confirmed the genetic and prognostic heterogeneity of the disorder, which comprises several autosomal dominant and recessive entities.
分析了47例新生儿期出现的成骨不全症的临床和影像学特征。设计了一个评分系统来对骨骼变化程度进行编码。评分2.7及以上者的预期死亡率为88%。评分2.6及以下者的生存率为90%。在以双下肢明显弯曲、骨骼其他部位轻度受累和巩膜白色为特征的亚组患者中，预后特别良好。具有这些特征的新生儿往往有良好的长期预后，骨折较少，肢体畸形部分或完全自发缓解。该研究证实了该疾病的遗传和预后异质性，它包括几种常染色体显性和隐性类型。
