Orofacial signs and dental abnormalities in patients with Mulvihill-Smith syndrome

Background: Mulvihill-Smith syndrome is a rare sporadic condition that was first recognized in 1975. A total of 11 cases have been described in the literature. The aim of this study was to describe the orofacial signs and dental anomalies, their frequency, and the relationship between Mulvihill-Smith syndrome and other progeroid syndromes via a review of the literature. Methods: A systematic PubMed search was performed to retrieve articles published between 1975 and the present day that described patients affected by Mulvihill-Smith syndrome. The search identified 14 articles, and data on 11 patients were extracted from the selected articles. Results: A total of 7 patients (63.6%) affected by Mulvihill-Smith syndrome were described as having a typical "bird" face. Dental abnormalities, including irregular shape, enamel defects, hypodontia, and taurodontism, were described in 6 patients (54.5%). All patients (100%) had multiple pigmented nevi on the face and a lack or thinning of subcutaneous tissue around the neck and face. Three patients with Mulvihill-Smith syndrome exhibited early onset of tumors of the gastrointestinal tract, including the tongue. Conclusion: Mulvihill-Smith syndrome is a clinically complex disease that may be caused by a single gene mutation. Numerous different tissues of the body are affected. This analysis of the orofacial signs may help clinicians to diagnose this rare pathology.