Pseudoachondroplasia with immune deficiency
Pseudoachondroplasia with immune deficiency
复制标题
伴有免疫缺陷的假性软骨发育不全
DOI：
10.1007/bf00974094
复制
发表时间：
2004
影响因子：
2.3
通讯作者：
A. Çavuşoğlu
中科院分区：
文献类型：
--
作者：
N. Kultursay;B. Taneli;A. Çavuşoğlu
一名5岁的男孩从2岁起就无法茁壮成长，双腿无力，走路蹒跚。他的智力发育正常。他的父母是正常的表型和无关。在分析他的血统时，只有一位祖父被描述为蹒跚步态。他有正常的颅面外观，但身体不成比例，躯干正常，四肢短，身高低于第三百分位数。诊断为假性软骨发育不全的临床，放射学和实验室检查结果。他还患有免疫缺陷症，其特征是T淋巴细胞数量少和血清免疫球蛋白A水平低。
A 5-year-old boy was admitted to the hospital with failure to thrive since he was 2 years old, with weakness in his legs and a waddling gait. He has normal mental development. His parents are normal phenotypically and are unrelated. In analysing his pedigree only a grandfather is described to have waddling gait. He has a normal craniofacial appearance but a disproportionate body with normal trunk and short extremities with height below the 3rd percentile. The diagnosis of pseudoachondroplasia was made on clinical, radiological and laboratory findings. He also had immune deficiency characterised by low T-lymphocyte populations and a low level of serum immunoglobulin A.