Hayes T B, Ramstad K, Nielsen E W
Kirurgisk avdeling, Nordland Sentralsykehus.
Tidsskr Nor Laegeforen. 1998 Oct 10;118(24):3769-72.
In this article we present a Norwegian family with hereditary multiple exostoses and a review of relevant literature. 21 family members were examined; ten males and six females had multiple exostoses, the youngest from six months of age. The exostoses had led to compression of nerves, disturbance of bone growth with shortening and bowing of the forearm bones, and valgus deformity of the knee and ankle. Physical function and quality of life was generally well preserved. Contrary to most reports, nearly half of the patients had allegedly noticed growth or debut of exostoses in adulthood. Almost half of the patients had had the exostoses removed surgically twice, (median value). Malignant transformation of exostoses has not been observed in the family.
在本文中,我们介绍了一个患有遗传性多发性骨软骨瘤的挪威家庭,并对相关文献进行了综述。对21名家庭成员进行了检查;10名男性和6名女性患有多发性骨软骨瘤,最年轻的患者为6个月大。骨软骨瘤导致了神经受压、骨生长紊乱,前臂骨缩短和弯曲,以及膝关节和踝关节外翻畸形。身体功能和生活质量总体上保持良好。与大多数报告相反,据称近一半的患者在成年期注意到骨软骨瘤生长或初次出现。几乎一半的患者(中位数)曾接受过两次手术切除骨软骨瘤。该家族中未观察到骨软骨瘤恶变。