Dr. Basant Khandelwal, K18133, Dr. Varshini Shanker
We present the case of a 10 year old child with Weill-Marchesani syndrome. The clinical diagnosis was made on the basis of the characteristic musculoskeletal features like short stature, broad head, expressionless facies, hypoplastic maxilla, shallow orbits, misaligned teeth and ocular manifestations including bilateral microspherophakia and progressive lenticular myopia.The variety of subtle manifestations in WMS pose a diagnostic challenge and these children are frequently misdiagnosed as high myopia or angle closure glaucoma.In view of progression, the intraocular pressure and degree of lens displacement must be carefully monitored. The ophthalmologist plays an essential role in early diagnosis of this syndrome as the most important functional abnormalities are ocular in origin.