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多发性遗传性骨软骨瘤

Multiple hereditary osteochondromata.

作者信息

Peterson H A

机构信息

Section of Pediatric Orthopedics, Mayo Clinic, Rochester, Minnesota 55905.

出版信息

Clin Orthop Relat Res. 1989 Feb(239):222-30.

PMID:2783565
Abstract

Multiple hereditary osteochondromata is a disorder consisting of multiple projections of bone (exostoses) capped by cartilage. The lesions are most numerous in the metaphyses of long bones but may appear on diaphyses of long bones and on flat bones and vertebrae. The transmission is autosomal dominant. Sarcomatous transformation is uncommon and probably occurs in fewer than 1% of patients. The more common indications for surgical excision of lesions are pain, growth disturbance, compromised joint motion, cosmesis, and secondary impingement of tendon, nerve, or vessel. Excision of the lesions is effective in relieving pain, improving cosmesis and joint motion, and removing secondary impingement of tendon, nerve, or vessel, and may retard or prevent progressive disturbance of osseous growth. Wrist and ankle deformities are often associated with relative shortening and bowing of the ulna and fibula, respectively; tilt and tapering of the distal radial and tibial epiphyses; and distal radioulnar and tibio-fibular diastasis. These deformities can be effectively treated by ulnar and fibular lengthening combined with hemiphyseal stapling of the distal radius and tibia. Progressive genu valgum is well corrected by placement of staples over the medial side of the physis of the distal femur or proximal tibia or both.

摘要

多发性遗传性骨软骨瘤是一种由多个带软骨帽的骨突起(外生骨疣)组成的疾病。病变在长骨的干骺端最为常见,但也可能出现在长骨的骨干以及扁骨和椎骨上。其遗传方式为常染色体显性遗传。肉瘤样变并不常见,可能发生在不到1%的患者中。手术切除病变的更常见指征是疼痛、生长障碍、关节活动受限、美观问题以及肌腱、神经或血管的继发性受压。切除病变对于缓解疼痛、改善美观和关节活动以及消除肌腱、神经或血管的继发性受压有效,并且可能延缓或防止骨生长的进行性紊乱。手腕和脚踝畸形通常分别与尺骨和腓骨的相对缩短和弯曲、桡骨和胫骨远端骨骺的倾斜和变细以及桡尺远侧和胫腓关节分离有关。这些畸形可以通过尺骨和腓骨延长联合桡骨和胫骨远端半骨骺钉合有效地治疗。股骨远端或胫骨近端或两者的骨骺内侧放置钉可以很好地矫正进行性膝外翻。

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