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隐性遗传的中间型骨硬化症。

Intermediate form of osteopetrosis with recessive inheritance.

作者信息

Kaibara N, Katsuki I, Hotokebuchi T, Takagishi K

出版信息

Skeletal Radiol. 1982;9(1):47-51. doi: 10.1007/BF00367382.

Abstract

The clinical and radiographic features of the intermediate form of osteopetrosis in two sibs are presented in which the disorder appears to have been inherited as a recessive trait. Although this form of osteopetrosis has been poorly delineated, its recognition is practically important in order to give an accurate prognosis. This paper also presents an unusual complication of bilateral avascular necrosis of the femoral head in the younger sib. Radiographic changes of the femoral heads suggest those of Legg-Calvé-Perthes disease, though the possibility of avascular necrosis following unrecognized femoral neck fracture is not completely excluded.

摘要

本文介绍了两名同胞患中间型骨硬化症的临床和影像学特征,该疾病似乎以隐性性状遗传。尽管这种类型的骨硬化症尚未得到充分描述,但对其进行识别对于给出准确的预后至关重要。本文还介绍了较年轻同胞发生的双侧股骨头缺血性坏死这一罕见并发症。股骨头的影像学改变提示为莱-卡-佩病,但未被识别的股骨颈骨折后发生缺血性坏死的可能性也不能完全排除。

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