KNIEST SYNDROME: CASE REPORT AND REVIEW OF LITERATURE

Abstract

Background Kniest syndrome (dysplasia) is a rare autosomal dominant chondrodysplasia that is characterized by distinct musculoskeletal and craniofacial irregularities. These abnormalities result from a mutation of the collagen type II gene (COL2A1) resulting in an abnormal type II collagen product. Craniofacial abnormalities seen in this syndrome include prominent eyes, flat nasal bridge, cleft palate, midface anomalies, tracheomalacia, and hearing loss. This report illustrates a case of Kniest syndrome with severe dentoskeletal malformation with cleft palate treated at Eastman Institute for Oral Health. In addition, the report also outlines clinical, histopathological and radiographic findings of the condition with a review of literature of Kniest syndrome. Method Case study of a 16 year old male with a history of Kniest syndrome presented to the Orthodontic clinic seeking treatment for misaligned teeth. The patient showed clinical features of this syndrome which included dwarfism, severe midface hypoplasia, flattened and rounded face with prominent eyes and nasal atresia. Patient had a history of cleft palate repair. Intraoral findings included severe gingival hyperplasia, high arched palate and abnormal dentoalveolar development. Conclusion Kniest syndrome (dysplasia) is a rare chondrodysplasia with differential diagnosis that can include Spondy-loepiphyseal dysplasia, Spondyloepimetaphyseal and Metatropic dwarfism. In addition to genetic testing, distinct radiographic features and histopathological studies are crucial in determining the proper diagnosis of the condition.