A syndrome characterized by mental deficiency,
epilepsy, cherubism, and stunted growth.
Cherubism Gingival Fibromatosis Epilepsy Mental
Deficiency Syndrome; Gingival Fibromatosis Hypertrichosis Cherubism Mental
Retardation Epilepsy Syndrome.
The diagnosis is a clinical one based on the presence of
cherubism, mental retardation, and short stature.
The affected individuals have a characteristic
cherubic facies as a result of fibrous dysplasia of the mandibule
associated with gingival fibromatosis and overgrowth that leads to inability
to close the mouth. Other features include epilepsy, mental retardation,
hypertrichosis, and small stature. Some of the reported cases had clinical
and radiological signs of juvenile rheumatoid arthritis. Other patients
present with ocular involvement (anterior and posterior segment ocular
abnormalities, including Axenfeld anomaly, retinopathy, and pale anomalous
optic discs). Finally, other manifestations have been described, such as
diabetes mellitus, telangiectasia, sensorineural deafness, and changes in
If juvenile rheumatoid arthritis is
present and severe, obtain cervical spine radiograph to rule out
atlantoaxial instability. Evaluate tracheal intubation (clinical,
radiographs). Evaluate neurological function (clinically, electroence-phalographic),
including seizure medications.
Because of the gingival and mandibular
overgrowth and dysplasia, tracheal intubation may be difficult. Avoid teeth
trauma. If the patient presents with juvenile rheumatoid arthritis, vascular
access and positioning might be more difficult.
Muscle relaxants should be avoided
until airway is secured. Consider interaction between antiepileptic
treatment and anesthetic drugs.
de Pina-Neto JM, Moreno AFC, Silva LR, et al: Cherubism, gingival
fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile
rheumatoid arthritis. Am J Med Genet 25:433, 1986.
Parkin B, Law C: Axenfeld anomaly and retinal changes in Ramon syndrome:
Follow-up of two sibs. Am J Med Genet
Ramon Y, Berman W, Bubis JJ: Gingival fibromatosis combined with cherubism.
Oral Surg 24:436, 1967.