Genetic alterations in syndromes with oral manifestations
A male patient aged 21 years reported to our institute with the chief complaint of loss of many teeth. Clinical examination revealed features such as brachycephaly [], cataract, skeletal abnormality of the fingers and dermatosis []. Premature exfoliation of teeth and partial anodontia was present. Radiographs revealed taurodontism []. An analysis of this array of phenotypic features revealed that the patient had only partial manifestations not fitting into any particular syndrome. The phenotype was correlated with genotype from the literature and the possible mapping was arrived as the RecQ like-protein 4 (RECQL4) gene at 8q24.3.