Solitary median maxillary central incisor syndrome: cone beam computed tomography illustrated review

Abstract

The solitary median maxillary central incisor syndrome (SMMCI) is a rare autosomal dominant genetic syndrome characterized by the presence of a single central incisor positioned along the midline in both primary and permanent dentition. It is often associated with the holoprosencephaly spectrum, a group of brain and facial malformations. The etiopathogenesis of SMMCI is believed to involve embryonic developmental defects occurring between the 35th and 38th day of gestation, primarily affecting midline facial structures. Several genetic factors, including mutations in the Sonic Hedgehog gene on chromosome 7 and other genetic variants, have been implicated in SMMCI development. Diagnosis is typically made through clinical examination, prenatal ultrasound, and postnatal dental evaluation. Management of SMMCI requires a multidisciplinary approach involving pediatricians, otolaryngologists, neuro-pediatricians, and genetic counselors. Dental interventions may include extraction and space maintenance, orthodontic treatment, prosthodontic options, or esthetic considerations. Further research is needed to understand better the underlying mechanisms and genetic factors associated with SMCI, which will contribute to improved diagnosis and management of this syndrome.