DR. NILANJAN CHOWDHURY

Dr. SANJOY CHOWDHURY

Abstract

Marshall syndrome is a rare autosomal dominant syndrome that presents with pathological myopia, congenital cataracts, sensorineural hearing loss, hypertelorism, and a flattened nasal bridge. We present two cases of Marshall syndrome with typical features but genetic studies revealed mosaicism which can explain absence of some features like hypertelorism ,flattened nose etc. Patients with Marshall syndrome have COL11A1 gene mutations leading to abnormalities in the production of collagen; mutations in this gene are also found in Type 2 Stickler’s syndrome. Strabismus, retinal detachments, arthritis, and ectodermal abnormalities are common in Marshall syndrome