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Ramon's syndrome
Associated persons:
Yochanan Ramon
Description:
A familial disease characterised by mild mental retardation, growth retardation, epilepsy, fibrous dysplasia of the maxillae, narrow palate, cherubism, hypertrichosis, juvenile rheumatoid arthritis, and gingival fibromatosis. Inheritance is autosomal recessive.
Bibliography:
- Y. Ramon, W. Berman, J. J. Bubus:
Gingival fibromatosis combined with cherubism.
Oral Surgery, Oral Medicine, Oral Pathology, 1967, 24: 436-448.
Ramon et al described 2 siblings with cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth.
- Y. Ramon, I. S. Engelberg:
An unusually extensive case of cherubism.
Journal of Oral and Maxillofacial Surgery, 1986, 44: 325-328.
- J. M. Pina-Neto, A. F. C. Moreno, L. R. Silva, M. A. S. L. Velludo, E. B. L. Patean, M. V. M. Ribeiro, L. Athayde-Junior, J. C. Voltarelli:
Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis.
American Journal of Medical Genetics, New York, 1986, 25: 433-441.
- C. Pridmore. M. Baraitser, J. Leonard:
Ramon syndrome with diabetes mellitus and vascular skin lesions in two sibs.
Clinical Dysmorphology, London, 1992, 1: 29-35.
- J. M. Pina-Neto, N. Vieira de Souza, M. A. S. L. Velludo, G. B. D. Perosa, M. M. S de Freitas, J. F. Colafemina:
Retinal changes and tumorigenesis in Ramon syndrome: follow-up of a Brazilian family.
American Journal of Medical Genetics, 1998, 77: 43-46.
- B. Parkin, C. Law:
Axenfeld anomaly and retinal changes in Ramon syndrome: follow-up of two sibs.
American Journal of Medical Genetics, 2001, 104: 131-134.
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