Clinical features of tricho-dento-osseous syndrome and presentation of three new cases: an addition to clinical heterogeneity.

Abstract

OBJECTIVE:

Tricho-dento-osseous dysplasia is a rare autosomal dominant disorder which involves increased bone density, enamel hypoplasia, enlarged pulp chambers, and molar taurodontism. This study discusses the phenotypic variability of this condition and describes 3 new cases from a large family.

STUDY DESIGN:

Three affected females and 1 unaffected female from the same family were clinically and radiographically evaluated. Mutation analysis was performed in the candidate gene DLX3. Phenotypes of affected individuals from 3 generations were compared to an unaffected control.

RESULTS:

All affected subjects show increased bone density in long bones and increased thickness and bone density in the skull, especially the skull base. Mandibles are within the upper normal size limits and display increased trabeculation and bone density. No bone loss or regression of the alveolar ridge occurs in older subjects after teeth have been lost.

CONCLUSION:

The mutation in DLX3 has positive effects on bone density throughout life. Although the mutation in this family is identical with mutations found in other families it results in clinical and phenotypic variability.

• Authors: Mohammad Islam, Alan G Lurie, Ernst Reichenberger
• Journal: Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics (Oral Surg Oral Med Oral Pathol Oral Radiol Endod) Vol. 100 Issue 6 Pg. 736-42 (Dec 2005) ISSN: 1528-395X [Electronic] United States
• PMID: 16301156 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural)

Chemical References

• Distal-less homeobox proteins
• Homeodomain Proteins
• Transcription Factors

Topics

• Abnormalities, Multiple (genetics)
• Adolescent
• Adult
• Aged
• Bone Density (genetics)
• Bone and Bones (abnormalities)
• Chromosome Disorders (genetics, pathology)
• DNA Mutational Analysis
• Dental Enamel Hypoplasia (genetics)
• Diagnosis, Differential
• Female
• Genetic Variation
• Hair (abnormalities)
• Homeodomain Proteins (genetics)
• Humans
• Pedigree
• Phenotype
• Radiography, Panoramic
• Skull (abnormalities)
• Syndrome
• Tooth Abnormalities (genetics, pathology)
• Transcription Factors (genetics)