Rubinstein-Taybi Syndrome with thymic hypoplasia.
Rubinstein-Taybi Syndrome with thymic hypoplasia.
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Rubinstein-Taybi 综合征伴胸腺发育不全。
DOI：
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发表时间：
1993
期刊：
影响因子：
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通讯作者：
Y. Hase
中科院分区：
文献类型：
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作者：
H. Kimura;Y. Ito;Y. Koda;Y. Hase
我们报告了一名20个月大的男婴的尸检结果，他患有鲁宾斯坦-塔比综合征和DiGeorge序列。尸检时未发现胸腺。通过仔细的显微镜检查，在甲状腺附近发现的少数胸腺组织显示胸腺细胞和皮质上皮细胞均显著耗尽。T细胞表面抗原免疫组织化学染色呈阳性反应。反复呼吸道感染可能部分归因于胸腺发育不全。其他主要畸形包括大拇指和大脚趾、小眼炎、鼻脑畸形、动脉导管未闭、输尿管膀胱交界处狭窄、双侧隐睾症和面部轻微畸形。
We report the autopsy findings in a 20-month-old boy with Rubinstein-Taybi syndrome and DiGeorge sequence. No visible thymus was demonstrated at the time of autopsy. With careful microscopic examination, a few pieces of thymic tissues found near the thyroid gland showed remarkable depletion of both thymocytes and cortical epithelial cells. Immunohistological staining with T-cell surface antigens resulted in a definite positive reaction. Repeated respiratory infections present in this patient may, in part, be attributable to thymic hypoplasia. Other major anomalies included broad thumbs and great toes, microphthalmia, arrhinencephaly, patent ductus arteriosus, stenosis of the ureterovesicular junction, bilateral cryptorchidism, and minor facial anomalies.
影响因子：
56.9
作者：
BOCKMAN, DE;KIRBY, ML
通讯作者：
KIRBY, ML