施姆克免疫性骨发育不良：病例报告与文献复习

Schimke immuno-osseous dysplasia: case report and review.

作者信息

Ludman M D, Cole D E, Crocker J F, Cohen M M

机构信息

Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.

出版信息

Am J Med Genet. 1993 Oct 1;47(5):793-6. doi: 10.1002/ajmg.1320470538.

DOI:10.1002/ajmg.1320470538

PMID:8267014

Abstract

We report on a patient with Schimke immunoosseous dysplasia, an autosomal recessive disorder, and review nine patients from the literature. Manifestations include spondyloepiphyseal dysplasia, lymphopenia, signs of defective cellular immunity, and progressive renal disease. This is the first patient known to have the additional findings of thrombocytopenia and microdontia.

摘要

我们报告了一例患有Schimke免疫性骨发育不良（一种常染色体隐性疾病）的患者，并回顾了文献中报道的另外9例患者。其临床表现包括脊椎骨骺发育不良、淋巴细胞减少、细胞免疫缺陷体征以及进行性肾病。该患者是已知首例伴有血小板减少和小牙畸形这些额外表现的病例。