title: Dentition abnormalities in a Timothy syndrome patient with a novel genetic mutation: a case report.
abstract: The purpose of this paper was to present the case of a two-year-old male diagnosed with Timothy syndrome who presented with generalized enamel defects in the primary dentition. Timothy syndrome is an autosomal dominant condition characterized by a de novo missense mutation in the Cav1.2 L-type calcium channel CACNA1C. Timothy syndrome patients present with multiple clinical manifestations, including: cardiac arrhythmias; syndactyly; immune deficiency; intermittent hypoglycemia; and neurologic issues, including seizures, mental retardation, hypotonia, and autism. Craniofacial abnormalities reported include: low-set ears; flat nasal bridge; small upper jaw; thin upper lip; round face; and baldness at birth. Abnormalities in the dentition have been reported, including small, misplaced teeth with poor enamel and severe caries. At present, there is no thorough description of the dental abnormalities seen in a patient with Timothy syndrome.
authors: Registered pharmacist in private practice, Indianapolis, Ind., USA. scott.papineau@yahoo.com.
authors: Scott D
authors: SD
authors: Papineau
authors: Division of Dentistry, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., USA.
authors: Stephen
authors: S
authors: Wilson
mesh_terms: D001321:Autistic Disorder; D020746:Calcium Channels, L-Type / Q000235:genetics; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics; D003744:Dental Enamel Hypoplasia / Q000235:genetics*; D003804:Dentin / Q000002:abnormalities; D005885:Gingival Hyperplasia / Q000235:genetics; D006801:Humans; D008133:Long QT Syndrome / Q000235:genetics*; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics*; D010347:Patient Care Planning; D013576:Syndactyly / Q000235:genetics*; D014071:Tooth Abnormalities / Q000235:genetics; D014094:Tooth, Deciduous / Q000002:abnormalities*
chemical_list: C079146:CACNA1C protein, human; D020746:Calcium Channels, L-Type; C419385:L-type calcium channel alpha(1C)