Multiple fractures in a patient with mutations of TWIST1 and TNSALP

被引：7

作者：

Barvencik, Florian ^{[1
,2
]}

Gebauer, Matthias ^{[1
,2
]}

Schinke, Thorsten ^{[1
,2
]}

Amling, Michael ^{[1
,2
]}

机构：

[1] Univ Med Ctr Hamburg Eppendorf, Dept Trauma Hand & Reconstruct Surg, Ctr Biomech, D-20246 Hamburg, Germany

[2] Univ Med Ctr Hamburg Eppendorf, Dept Expt Trauma Surg & Skeletol Biol, Ctr Biomech, D-20246 Hamburg, Germany

来源：

CLINICAL ORTHOPAEDICS AND RELATED RESEARCH | 2008年 / 466卷 / 04期

关键词：

D O I：

10.1007/s11999-008-0123-9

中图分类号：

R826.8 [整形外科学]; R782.2 [口腔颌面部整形外科学]; R726.2 [小儿整形外科学]; R62 [整形外科学（修复外科学）];

学科分类号：

摘要：

Hypophosphatasia is a rare inherited disorder characterized by defective skeletal mineralization and low alkaline phosphatase activities in the serum. The genetic cause of hypophosphatasia is believed related to inactivating mutations in the TNSALP gene, encoding tissue-nonspecific alkaline phosphatase. Another rare inheritable disease, Saethre-Chotzen syndrome, leads to premature fusion of the cranial sutures caused by heterozygous mutations of the human TWIST1 gene. Because the two disorders apparently are not genetically related (only reported individually) yet both involve defective skeletal formation, we believe it is important to report our findings on a patient harboring mutations of TNSALP and TWIST1.

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页码：990 / 996

页数：7

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