Weil–Marchesani syndrome: A case report and literature review

Abstract

Weill–Marchesani syndrome is a rare connective tissue disorder, with a poorly understood etiology that has been primarily related to hereditary genetic factors, including mutations in ADAMTS10 and fibrillin-1. Clinically, it is characterized by a phenotype of short stature and brachydactyly, associated with joint stiffness and eye problems that begin to be noticed in childhood. There is little information about this disease in the Mexican population. This is a description of the case of a 17-year-old female patient with clinical feature compatible with this syndrome, as well as a brief review of the literature on this entity. The knowledge of this syndrome is important to achieve a timely diagnosis and prevent the complications associated with it.

Keywords

• adamts10
• braquidactilia
• ectopia lentis
• fibrilina 1
• glaucoma
• microesfrofaquia