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线性皮脂腺痣综合征与抗维生素D佝偻病

Linear sebaceous naevus syndrome and resistant rickets.

作者信息

Hosalkar H S, Jones D H, Offiah A, Hall C

机构信息

Department of Orthopaedic Surgery, Hospital for Children, Great Ormond Street, London, England, UK.

出版信息

J Bone Joint Surg Br. 2003 May;85(4):578-83. doi: 10.1302/0301-620x.85b4.13483.

DOI:10.1302/0301-620x.85b4.13483
PMID:12793567
Abstract

The association between vitamin-D-resistant rickets and linear sebaceous naevus syndrome is extremely rare. Only eight cases have been described in the English literature and in none were the skeletal aspects addressed. We present three new cases and describe the musculoskeletal features. The details and outcome of surgery for correction of the deformities are discussed. The disturbances of metabolism of vitamin D and the effects of pharmacological treatment are also described.

摘要

维生素D抵抗性佝偻病与线状皮脂腺痣综合征之间的关联极为罕见。英文文献中仅描述了8例,且均未涉及骨骼方面。我们报告3例新病例并描述其肌肉骨骼特征。讨论了矫正畸形手术的细节及结果。还描述了维生素D代谢紊乱及药物治疗的效果。

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