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首页> 美国卫生研究院文献>Journal of Medical Genetics >Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review.
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Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review.

机译：身材矮小/四肢短小骨骼发育不良伴有严重的免疫缺陷和股弓弯弓：两名患者的报告并复习。

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摘要

We report two patients with severe combined immunodeficiency and short stature/short limb skeletal dysplasia. Case 1 presented at birth with rhizomelic shortening of the extremities and bowing of the femora. She developed clinical signs of severe combined immunodeficiency at 13 months and died at 21 months. Case 2 had severe prenatal shortening and bowing of the extremities and a small, malformed chest. Symptoms of severe combined immunodeficiency and severe failure to thrive developed soon after birth and she died at 5 months. The diagnosis of severe combined immunodeficiency in our patients was based on their clinical course and necropsy findings, supported in case 1 by the results of immune function tests. The results of investigation of immune function (immunoglobulins, lymphocyte subpopulations, lymphocyte function) are very variable in this syndrome as in other variants of severe combined immunodeficiency. Bone histopathology in both patients showed grossly irregular costochondral junctions, but normal transition of proliferating to hypertrophic chondrocytes. These cases belong to early lethal type 1 short limb skeletal dysplasia with severe combined immunodeficiency. Review of previously published cases with severe combined immunodeficiency and well documented skeletal findings show eight patients with prenatal onset of bowing and shortening of the extremities and metaphyseal abnormalities. These include two sib pairs concordant for the skeletal changes. In these cases, adenosine deaminase levels were not reported. An additional four published cases with associated adenosine deaminase deficiency had only mild metaphyseal abnormalities, but subsequently showed no linear growth.(ABSTRACT TRUNCATED AT 250 WORDS)
机译：我们报告两名患者合并严重的免疫缺陷和身材矮小/短肢骨骼发育不良。病例1在出生时表现为四肢根茎缩短和股弓弯曲。她在13个月时出现了严重的综合免疫缺陷的临床体征，并在21个月时死亡。病例2有严重的产前四肢缩短和弯曲，胸部小而畸形。出生后不久就出现了严重的综合免疫缺陷和严重的不能正常ive壮的症状，并于5个月时死亡。在我们的患者中，根据他们的临床病程和尸检结果诊断为严重的联合免疫缺陷，并在病例1中得到了免疫功能测试的结果的支持。免疫功能（免疫球蛋白，淋巴细胞亚群，淋巴细胞功能）的调查结果在该综合征中的变化很大，与其他严重合并免疫缺陷症的变体一样。两名患者的骨组织病理学均显示出严重的不规则肋软骨交界，但增殖细胞正常过渡为肥大软骨细胞。这些病例属于早期致命的1型短肢骨骼发育不良，伴有严重的联合免疫缺陷。对先前发表的具有严重联合免疫缺陷的病例进行回顾，并充分记录骨骼发现结果，发现8例患者产前发作，四肢缩短和干phy端异常。这些包括与骨骼变化一致的两个同胞对。在这些情况下，没有报道腺苷脱氨酶水平。公布的另外4例伴有腺苷脱氨酶缺乏症的病例仅有轻度的干phy端异常，但随后没有线性增长。（摘要截断为250字）

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