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Scholars Journal of Medical Case Reports | Volume-2 | Issue-08
A Rare Case Report: Weill Marchesani Syndrome
Siddharam Janti, Adnan Matheen, Charanya. C, Pandurangan. R
Published: Aug. 29, 2014 |
133
114
DOI: 10.36347/sjmcr.2014.v02i08.009
Pages: 530-531
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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.