摘要
报告2例Rothmund Thomson综合征病例,为表兄弟,分别3岁5个月和2岁8个月。他们的母亲是姐妹关系。2个病例都是在出生后的3-4个月时发病,主要表现为面部的皮肤异色症及身材稍矮小,智力和发育仍属正常。包括两病例在内,整个家系中在2-5代共有10人发病,全是男性患者。本家系的遗传方式与通常认为的常染色体遗传方式不符,而与性连锁隐性遗传较为吻合,该综合征是否也存在着多种遗传方式值得进一步探讨。
Two cases of Rothmumd-Thomson syndrome were reported and the family pedigree has been analyzed. The probands of cousins were 3-year-old and 2-year-old respectively, and clinical manifestations were poikiloderma on face and short stature with normal intelligence. There were eight male , no any female patients, in this family. The pattern of inheritance was quite different from the common one--autosomal recessive pattern, it was coincided with sex-linked inheritance.
出处
《岭南皮肤性病科杂志》
2006年第1期55-57,共3页
Southern China Journal of Dermato-Venereology
