LAUSR

Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by brachydactyly, short stature, joint stiffness, cardiovascular abnormalities, and eye anomalies including microspherophakia, cataracts, ectopia lentis, myopia, and secondary glaucoma. Patients with incomplete WMS signs are diagnosed with WeillMarchesani-like syndrome (WMS-like). To date, both autosomal dominant (AD) and autosomal recessive (AR) inheritance modes have been reported for WMS. Genetic heterogeneity inWMS suggests a connection between these genes. AR and AD WMS cannot be distinguished clearly by clinical findings alone. Furthermore, inter-familial as well as intra-familial clinical variability due to different fibrillin-1 gene (FBN1) mutations also exists. The clinical heterogeneity and incomplete penetrance of FBN1 gene mutations can usually present a diagnostic dilemma for WMS. Here, we report the genetic analysis and clinical observations of a Chinese family affected with AD WMSlike due to a heterozygous mutation in FBN1 using wholeexome sequencing. This study was approved by the Research Ethics Committee of the Hospital Authority of West China Hospital, Sichuan University, and adhered to the tenets of the Declaration of Helsinki and the association for research in vision and ophthalmology statement on human subjects. Written informed consent was obtained from the family for publication of this study and any accompanying images.