RADIOGRAPHIC MANIFESTATIONS OF THE NEVOID BASAL CELL CARCINOMA SYNDROME

共有100名患者属于5个家庭与痣基底 细胞癌（NBCC）综合征将被研究用于遗传分析， 细胞表型/细胞遗传学和与分子生物学的合作研究 生物学家试图分离出一种能将NBCC细胞从 异常表型转化为正常表型。 在本研究的部分中， 指定的“症状描绘”诊断放射学起着重要的作用， 作用 许多骨骼异常、内脏病变（通过腹部和腹部检查研究） 盆腔超声）和脑发育异常病变（通过CT研究 扫描）。 到目前为止（1985年5月）， 接受了这项协议。 以前未被识别的骨骼变化， 迄今为止，在研究的患者中发现了NBCC。 我们还 记录了这一组中胆结石的发病率高于平常， 患者与普通人群相比。 较大数的应计 目前正在等待案件的最后陈述。

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 geneable 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 (May 1985) about twenty-five 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.