A Rare Case Report: Weill Marchesani Syndrome
Journal Title: Scholars Journal of Medical Case Reports - Year 2014, Vol 2, Issue 8
Abstract
A 21 year old female came with defective vision for 10 years. She also had short stature (height 126 cm) with short and stubby fingers in both limbs. Anterior segment slit lamp examination revealed shallow anterior chamber, microspherophakia with superonasal subluxation in right eye and superotemporal subluxation in left eye respectively with normal fundus. Keratometry reading and axial length was +44.75D , 22.30mm in right eye and +45.25D, 22.11mm in left eye. Intraocular pressure by Goldmann applanation showed 20 mmhg and 34 mmhg respectively. On UBM with 50HZ probe we found decreased anterior chamber, narrow angle of anterior chamber, increased lenticular sphericity, sparse zonules in both eyes and subluxation of lens in both eyes. She was diagnosed with Weill-Marchesani syndrome (WMS) a connective tissue disorder that usually presents in childhood with short stature and ocular problems. The major features of Weill-Marchesani syndrome are short stature, eye abnormalities, unusually short fingers and toes (brachydactyly), and joint stiffness. Keywords: Weill-Marchesani syndrome, defective vision, microspherophakia
Authors and Affiliations
Siddharam Janti, Adnan Matheen, Charanya. C, Pandurangan. R
Keywords
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