有心血管损伤的索拉门综合征
Xiong Zhao1, Xiaojie Yue1, Shifan Yuan2
1Department of Burn and Plastic Surgery, The Children's Hospital, National Clinical Research Center, Zhejiang University School of Medicine, Zhejiang Hangzhou, PR China.
索拉门综合征是一种罕见的先天性疾病,涉及逐渐过度生长和形. 这一案例突出了PTEN突变,并引入了PDGFRB变异,强调需要仔细诊断和监测.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 皮肤病学 皮肤病学
背景情况:
- 索拉门综合征是一种罕见的先天性疾病,其特征是渐进的,高的多系统性疾病.
- 它与异性PTEN突变有关,但与其他疾病的表型重叠使诊断复杂化.
- 错误诊断是可能的,因为与Klippel-Trenaunay和Parks-Weber综合征的相似性.
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