Kohlschütter–Tönz Syndrome: dental implications and management

A 5-year-old boy attended with a clinical presentation consistent with amelogenesis imperfecta. Following independent research, the patient's mother felt his overall medical and dental presentation matched the features of a rare autosomal recessive condition called Kohlschütter–Tönz syndrome. Genetic testing confirmed the suspected diagnosis to be correct. This report highlights the impact of this diagnosis on the patient's family and the importance of multidisciplinary care, as well as exploring the role of the dentist in supporting families that may be struggling to come to terms with a new diagnosis. CPD/Clinical Relevance: Dentists have a role in supporting patients and families with complex medical or dental diagnoses.