Heterozygous germline mutations in mammalian target of rapamycin (MTOR) (OMIM 601231) are known to underlie Smith-Kingsmore syndrome (SKS; OMIM 616638), an infrequent entity with autosomal dominant inheritance, also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (ORPHA 457485).¹ Among the clinical features of SKS, the most common features include intellectual disability, macrocephaly, epilepsy, and facial dysmorphism. The aim of this case is to raise awareness of a distinct phenotypical presentation of SKS manifesting with bilateral cataracts and no history of seizures.

哺乳动物雷帕霉素靶标（MTOR）（OMIM 601231）的杂合种系突变已知是Smith-Kingsmore综合征（SKS; OMIM 616638）的基础，Smith-Kingsmore综合征是一种常染色体显性遗传的罕见个体，也被称为大头畸形-智力障碍-神经发育障碍-小胸综合症（ORPHA 457485）。¹在SKS的临床特征中，最常见的特征包括智力障碍，大头畸形，癫痫和面部畸形。该病例的目的是提高人们对双侧白内障，无癫痫病史的SKS独特表型表现的认识。