Special Health Care Needs
Chang Joo Lee, DMD
Resident
Tufts University School of Dental Medicine
Tufts University School of Dental Medicine
Brookline, Massachusetts, United States
Cheen Y. Loo, DMD, PhD
Department Chair
Tufts University
Boston, Massachusetts, United States
Meletia Laskou, DMD, DDS, FAAPD
Tufts University School of Dental Medicine
Introduction: Noonan syndrome is a genetic multisystem disorder that causes abnormal development of the body. It is characterized by distinctive facial features, short statue, webbed neck, developmental delay, learning difficulties, congenital heart defects, and bleeding problem. Noonan syndrome is caused by a genetic mutation, commonly in the Ras/MAPK (mitogen-activated protein kinase) cell signaling pathway, which is essential in the regulation of cell cycle, differentiation, growth and cell senescence. The mutations can be inherited in autosomal dominant manner, are often due to de novo mutation. Mutation of genes encoding proteins in Ras/MAPK pathway affects growth and development of a patient with Noonan syndrome.
Case Report: This presentation discusses a 16-year-old female patient who was referred to Tufts School of Dental Medicine Pediatric clinic due to multiple caries with unerupted horizontally impacted #12. The patient’s medical history is significant for Noonan syndrome, ADHD, exercise-induced asthma, and history of cardiac surgery when patient was one year old. Current medication is albuterol for asthma attack. Patient did not report any drug allergies. Extra oral clinical examination revealed short stature, wide-set, downslanting eyes with short neck. Intra oral examination revealed high arched palate, malocclusion, micrognathia, multiple caries, open anterior bite, over retained primary teeth and unerupted #6 and 11. This report includes clinical findings associated with Noonan syndrome and treatment rendered to the patient.