Reed W B, Sugarman G I, Mathis R A
Arch Dermatol. 1977 Nov;113(11):1561-3. doi: 10.1001/archderm.113.11.1561.
One of the first patients studied by Cleaver on the DNA repair defect to ultraviolet light damage in xeroderma pigmentosum has been subjected to autopsy examination. This patient had the DeSanctis-Cacchione syndrome (microcephaly, dwarfism, mental deficiency, and choreoathetosis). Her autopsy findings were similar to those of the other three patients with this syndrome, emphasizing olivopontocerebellar atrophy, who underwent autopsy. The patient apparently could not tolerate psoralens because of increased incidence of carcinoma formation.
克利弗研究的首例着色性干皮病中紫外线损伤DNA修复缺陷患者已接受尸检。该患者患有德桑蒂斯 - 卡卡乔内综合征（小头畸形、侏儒症、智力缺陷和舞蹈徐动症）。她的尸检结果与另外三名患有该综合征且接受尸检的患者相似，均显示橄榄脑桥小脑萎缩。由于患癌几率增加，该患者显然无法耐受补骨脂素。
