Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis.
This is a report on four persons in one family with a condition similar to that described by Ramon et al [Oral Surg 24:436-48, 1967] in two sibs born to a consanguineous couple. Our patients also had mental deficiency, epilepsy, cherubism due to fibrous dysplasia of the maxillae, gingival fibromatosis, hypertrichosis, and stunted growth. This appears to be an autosomal recessive trait in both families. Our patients are the second set reported with this syndrome; they also have juvenile rheumatoid arthritis, which was not described in the family reported by Ramon et al [Oral Surg 24:436-48, 1967]. We conclude that the Ramon syndrome should also include juvenile rheumatoid arthritis.
D001171:Arthritis, Juvenile / Q000150:complications / Q000235:genetics*; D002636:Cherubism / Q000235:genetics*; D003241:Consanguinity; D004827:Epilepsy / Q000235:genetics; D005260:Female; D005886:Gingival Hypertrophy / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010375:Pedigree; D013577:Syndrome