Oral and craniofacial manifestations in an individual with Seckel syndrome features: A case report

This study aims to describe the oral and craniofacial findings of a patient undergoing genetic investigation related to Seckel syndrome. A 36-year-old patient, during clinical examination, exhibited general manifestations potentially associated with Seckel syndrome, such as microcephaly, harmonious short stature, and compensated cardiopathy with the use of a pacemaker, besides intellectual deficit. Among the orofacial findings, significant mandibular atrophy with discontinuity of the inferior alveolar neurovascular canal, taurodontism in posterior teeth, and micrognathia were observed. The need for procedures such as extractions and/or endodontic treatment, evidenced after clinical history analysis and physical examination, especially in the lower teeth, posed a clinical challenge due to the thin mandibular bone thickness and dental apices’ proximity to the mandibular canal. This study highlights the findings of a patient who exhibits clinical features consistent with Seckel syndrome based on observed physical, oral, and maxillofacial alterations despite the absence of confirmed genetic characterization. It also highlights the absence of standardized clinical approaches in the care plan for this patient group.