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.
Oculo-Dento-Osseous Dysplasia; ODOD Syndrome.
Only a few cases reported.
First described in 1964 by F.D. Gillepsie in a brother and
Two modes of transmission: autosomal dominant
for the common form and autosomal recessive for the severe form. The gene
responsible for the disease is mapped to the long arm of chromosome 6.
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; however, many cases are new mutations.
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 (e.g., spinal cord compression
from enlarged C1 vertebra) has been reported.
It is recommended to check the teeth condition. 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.
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
None, except in the presence of
Colreavy F, Colbert S, Dunphy J: Oculodento-osseous dysplasia: Review of
anaesthetic problems. Paediatr Anaesth 4;4:179, 1994.