RADIOGRAPHIC MANIFESTATIONS OF THE NEVOID BASAL CELL CARCINOMA SYNDROME

共有5个家族的100名患者患有新生血管。 细胞癌(NBCC)综合征将被研究用于遗传分析， 细胞表型/细胞遗传学及其与分子的合作研究 生物学家试图分离一种能够转化NBCC细胞的基因 从异常表型到正常表型。在这部分中 被指定为“症状描绘”的放射学诊断研究发挥了作用 重要的角色。 大量骨骼异常、内脏损害(由腹部和 骨盆超声)和脑内发育不良病变(CT研究 扫描)被记录下来。到目前为止，已有大约25名患者因此入院。 协议。在NBCC中发现了以前未被识别的骨骼变化 在迄今为止研究过的患者中。我们还记录了比 这组患者中胆结石的常见发病率与 普通人口。更大数量的案件正在等待处理 明确的声明。

A total of 100 patients belonging to five families with the Nevoid Basal Cell Carcinoma (NBCC) Syndrome are to be studied for genetic analysis, cellular phenotype/cytogenetics and collaborative studies with molecular biologists in an attempt to isolate a gene able to transform NBCC cells from an abnormal phenotype to a normal phenotype. In the portion of this study designated "syndrome delineation" diagnostic radiology plays a significant role. Numerous skeletal abnormalities, visceral lesions (studied by abdominal and pelvic ultrasound) and dysplastic lesions in the brain (studied by CT scans) are noted. So far about 25 patients have been admitted to this protocol. Previously unrecognized skeletal changes in NBCC have been found in the patients studied to date. We have also documented a higher than usual incidence of gallstones in this group of patients as compared to the general population. Accrual of larger numbers of cases is awaited to make definitive statements.