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厚皮性骨膜病:一例报告。

Pachydermoperiostosis: a case report.

作者信息

Sayli U, Yetkin H, Atik O S, Uluoglu O, Bölükbasi S

机构信息

Department of Orthopaedics, Gazi University Hospital, Besevler, Ankara, Turkey.

出版信息

J Foot Ankle Surg. 1993 Sep-Oct;32(5):480-3.

PMID:8252005
Abstract

Pachydermoperiostosis in three males of seven siblings from a village of mid-Anatolia is presented. Although X-linkage could not have been ruled out, the autosomal recessive inheritance was considered most likely. It differs from the autosomal dominant form by growth retardation, early ulcers, and acrolysis of the distal parts of the extremities with secondary contractures.

摘要

本文报道了来自安纳托利亚中部一个村庄的七名兄弟姐妹中的三名男性患有厚皮性骨膜病。虽然不能排除X连锁遗传,但最有可能的是常染色体隐性遗传。它与常染色体显性形式的不同之处在于生长发育迟缓、早期溃疡以及四肢远端部位的肢端溶解并继发挛缩。

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