Oculodentodigital Syndrome

At a glance

Very rare form of bone dysplasia characterized by microphthalmia, microsomia, large jaw, and hypoplasia of the dental enamel. Other possible features are syndactyly or clinodactyly and glaucoma.

Synonyms

Oculo-Dento-Osseous Dysplasia (ODOD) Syndrome; Meyer-Schwickerath disease.

Incidence

Fewer than 300 cases reported worldwide.

History

First described in 1964 by F. D. Gillespie in a brother and sister.

Genetic inheritance

Autosomal dominant with high penetrance and variable expressivity. There are many cases reported as the result of new mutations.

Pathophysiology

Mutations of the GJA1 gene on 6q22 which codes for connexin-43. Connexins are a family of transmembrane proteins and are the building blocks of gap junction channels, intercellular channels that connect the cytoplasm of two neighboring cells.

Diagnosis

On radiographs the skull shows enlargement of the mandible and osteosclerosis of the skull. The orbits and basal ganglia may exhibit calcification. Other findings include widening of the metaphyses and cortical thickening of the tubular bones. Based on clinical picture and family history.

Clinical aspects

Facial Appearance: Long, thin nose with hypoplasia of alae nasi and anteverted nostrils; may have cleft lip or palate. Ocular Anomalies: Microphthalmia, short palpebral fissures, epicanthal folds, and microcornea. The presence of open-angle glaucoma has been reported as a late complication in 20% of patients. Dental: Enamel dysplasia with loose or brittle teeth. Limb Anomalies: Syndactyly, camptodactyly. Skeletal: Widespread osseous anomalies; mandibular overgrowth or micrognathia; broad clavicles and long bones. Central Nervous System: Intelligence is usually normal, but patients may have dysarthria, ataxia, or paraparesis. In the autosomal recessive type, calcification of basal ganglia, dilated ventricles, and the presence of more severe skeletal involvement (eg, spinal cord compression from enlarged C1 vertebra) has been reported.

Precautions before anesthesia

It is recommended to check the condition of the teeth. In case of severe skeletal involvement, CT scan of the brain and cervical spine should be obtained. An ophthalmologic examination to exclude glaucoma must be performed.

Anesthetic considerations

Teeth are very fragile and may be easily broken or avulsed during direct laryngoscopy. Laryngoscopy and tracheal intubation can be difficult because of mandibular overgrowth or microretrognathia. The presence of a small nose can make nasotracheal intubation difficult.

Pharmacological implications

None, except in the presence of open-angle glaucoma.

References