Cenani-Lenz syndactyly (CLS) is a rare autosomal recessive syndrome characterized by disorganized oligosyndactyly of upper and lower limbs as well as radioulnar synostosis. Structural renal abnormalities are also common. We report two affected brothers, born to orthodox Jewish parents, in whom we found a novel homozygous missense variant c.4910G>A; p.(Cys1637Tyr) in LRP4 situated in an EGF-like domain between the fourth beta-propeller and transmembrane domains. Both brothers have had recurrent ketotic hypoglycaemia which has not been associated previously. We present 3D computed tomographic imaging illustrating the limb abnormalities in detail.

中文翻译：

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Cenani-Lenz在兄弟姐妹中具有新的纯合LRP4突变并反复出现低血糖症

Cenani-Lenz综合征（CLS）是一种罕见的常染色体隐性遗传综合征，其特征是上肢和下肢的寡突突性少见以及放射性尺骨突触。肾结构异常也很常见。我们报告了两个受影响的兄弟，他们是正统的犹太父母所生，在其中我们发现了一个新的纯合错义变体c.4910G> A。LRP4中的p。（Cys1637Tyr）位于第四个β-螺旋桨和跨膜结构域之间的EGF样结构域中。两兄弟均患有复发性酮症性低血糖症，以前从未发生过。我们提出了详细说明肢体异常的3D计算机断层成像。