马凡综合征（Marfan syndrome，MFS）是一种典型的遗传性结缔组织疾病，由 FBN1 基因突变引起，呈常染色体显性遗传。MFS 患者不仅有晶状体异常（如 EL），还伴有骨骼畸形（身材高大、四肢及手指脚趾细长）和胸主动脉瘤、主动脉夹层等症状。韦尔 - 马凯萨尼综合征 2 型（Weill–Marchesani syndrome 2，WMS2）同样是由 FBN1 ...

A CT scan showed that he had a rare condition called Crossed Fused Ectopia – where his left and right kidneys were both on the right side, with the right kidney on top and the abnormal left ...