ANDERSEN–TAWIL SYNDROME

Andersen–Tawil syndrome is a rare autosomal dominant multisystemic channelopathy characterized by a classic triad consisting of periodic paralysis, cardiac arrhythmias, and dysmorphic features. The disease is most commonly associated with loss-of-function mutations in the KCNJ2 gene, which encodes the inward rectifier potassium channel Kir2.1. Due to phenotypic variability and incomplete penetrance, all components of the triad may not be present in every patient, making diagnosis challenging. Reported craniofacial findings include broad forehead, low-set ears, hypertelorism, maxillary and mandibular hypoplasia, while dental findings include dental crowding, abnormal dentition, enamel hypoplasia, hypodontia, hyperdontia, microdontia, and macrodontia. The aim of this case report is to present the dental and radiographic findings observed in a patient diagnosed with Andersen–Tawil syndrome and to emphasize the relevance of this syndrome in dental practice. A 21-year-old female patient, who had been diagnosed with Andersen–Tawil syndrome and was being followed by cardiology and neurology departments, presented to our clinic for routine dental examination. Intraoral examination revealed multiple dental anomalies, marked dental irregularity, severe anterior crowding, tooth position anomalies, and enamel irregularities. Panoramic radiographic evaluation showed multiple dental deficiencies, eruption/position anomalies, and the need for restorative-prosthetic treatment. Due to the patient’s systemic disease history, cardiac risk and medical history were considered during dental treatment planning. In conclusion, careful evaluation of dental and craniofacial findings in patients with Andersen–Tawil syndrome is important for recognizing rare syndromic phenotypes and for considering systemic risks during dental treatment planning. Keywords: Andersen–Tawil syndrome, dental anomalies, craniofacial findings, channelopathy, dysmorphic features