Ramon's Syndrome: A Rare Entity

Abstract

Introduction Ramon et al in 1967 described a condition, which included mental retardation, fibrous dysplasia of the maxilla and stunted growth. De Pino et al described a Brazilian family of four who had the same features as that of Ramon's syndrome in association with juvenile arthritis. Cherubism was first described in 1933 by Jones as ‘familial multilocular cystic lesion of the jaws’, a rare benign fibroosseous disease of the jaws, which is transmitted as an autosomal dominant trait. Affected children usually present before five years of age with painless progressive swelling of the cheeks, frequently associated with dental malformations. It progresses until puberty, and shows partial or complete spontaneous involution in adulthood; therefore, management is mostly conservative. The condition was initially characterized as familial, particularly as a form of craniofacial fibrous dysplasia. The children affected with cherubism do not usually show mental or physical deformities, but when cherubism is associated with other syndromes like Noonan-like syndrome, Ramon syndrome, and Fragile X syndrome, mental and physical deformities may be seen. Case Report This is a case report of a 12-year-old boy who reported with a massive painless bilateral swelling of the face, which has been increasing since the age of 2 years. The patient had multiple unerupted teeth, gingival hyperplasia, hearing loss and mental retardation. A detailed case report, including the histopathology, radiographic features (extraoral, CT and MDCT), and management of the case will be discussed in detail.

Oral and periodontal features of autosomal recessive syndromes: a tabular review

“…The characteristic feature of occurrence of fibromatosis is its coincidence with the eruption of teeth. [2][3][4][5]42,43] Rutherford syndrome (RS): The association of gingival fibromatosis with corneal opacities and retarded tooth eruption is recognized as an autosomal dominant trait known as Rutherfurd syndrome. [2][3][4][5] Winchester syndrome (WS): Winchester Syndrome is often attributed to alteration in a gene called MMP2.…”

“…A classic distinguishing feature between HMS and Papillon-Lefever syndrome [PLS] is that the severity of the periodontal destruction is less severe in later. [14,42] Early diagnosis seconded by prompt intervention often leads to better retention of permanent teeth.…”