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


METHODS
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.


CONCLUSIONS
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.
Islam
Mohammad
M
Division of Oral and Maxillofacial Radiology, Department of Oral Health and Diagnostic Sciences, University of Connecticut Health Center, Farmington, CT 06030-3705, USA.
Lurie
Alan G
AG
Reichenberger
Ernst
E
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000368:Aged; D015519:Bone Density / Q000235:genetics; D001842:Bone and Bones / Q000002:abnormalities*; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D003744:Dental Enamel Hypoplasia / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D014644:Genetic Variation; D006197:Hair / Q000002:abnormalities*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D010375:Pedigree; D010641:Phenotype; D011862:Radiography, Panoramic; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics* / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics
C088334:Distal-less homeobox proteins; D018398:Homeodomain Proteins; D014157:Transcription Factors