Ramon Syndrome

At a glance

A syndrome characterized by mental deficiency, epilepsy, cherubism (gingival fibromatosis), hypertrichosis, and stunted growth.

Synonyms

Cherubism Gingival Fibromatosis Epilepsy Mental Deficiency Syndrome; Gingival Fibromatosis Hypertrichosis Cherubism Mental Retardation Epilepsy Syndrome.

Genetic inheritance

Autosomal recessive.

Incidence

Less than 10 cases reported.

Diagnosis

The diagnosis is a clinical one based on the presence of cherubism, mental retardation, and short stature.

Clinical aspects

The affected individuals have some characteristic cherubic facies as a result of fibrous dysplasia of the mandible 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 the retina.

Precautions before anesthesia

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, electroencephalographic), including seizure medications.

Anesthetic considerations

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.

Pharmacological implications

Consider interaction between antiepileptic treatment and anesthetic drugs.

Other conditions to be considered

• ☞Laband Syndrome: Rare disorder (about 50 patients reported) characterized by gingival fibromatosis, dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly, hirsutism, and abnormalities of the cartilage of the nose and/or ears.

• Winchester Syndrome: Characterized by severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning without subcutaneous nodules. Joint contractures make positioning of patient difficult. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported.

• Rutherfurd Syndrome: Characterized corneal dystrophy, hypertrophy of gums, and failure of tooth eruption. No mental retardation. Autosomal dominant inheritance likely.

• ☞Jones Syndrome: Autosomal dominant inherited polymalformation syndrome characterized by gingival fibromatosis and progressive sensorineural deafness.

References