Tricho-Dento-Osseous Syndrome: A Report of a Familial Cluster and a Literature Review

Abstract

Tricho-dento-osseous syndrome (TDO), is a very rare, autosomal dominant genetic disorder, commonly characterized by curly hair at infancy, severe enamel hypomineralization and hypoplasia with taurodontism teeth, bone defects and other deformities. Other phenotypic features include flat fingernails and altered craniofacial morphology. A genetic linkage has been identified on chromosome 17q21 in the DLX3 gene. Treatment plan of TDO is to prevent problems such as sensitivity and dental attrition of the hypoplastic structure of the tooth, to promote the esthetics and encourage self-confidence of the patient. In this case report, we present a family with the proband father, and the two children siblings affected by the TDO syndrome. We describe clinical and radiological features, along with dental characteristics and genetic background. Management of TDO syndrome necessitates a multidisciplinary approach, appropriate documentation, and long-term follow up.