Special Health Care Needs
qasim iqbal, BDS
Resident
Tufts school of Dental Medicine
TUFTS university dental medicine
Brookline, Massachusetts, United States
Meletia Laskou, DMD, DDS, FAAPD
Tufts University School of Dental Medicine
Cheen Y. Loo, DMD, PhD
Department Chair
Tufts University
Boston, Massachusetts, United States
Introduction: Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The condition results from the deletion of a small piece of chromosome 17 p11.2 resulting in haploinsufficiency for the gene retinoic acid-induced 1 (RAI1). This condition affects at least 1 in 25,000 individuals worldwide. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, dental and behavioral problems.
Case Report: The presentation discusses a 15 year old female patient who was referred to Tufts Pediatric Dental Department for restoration of multiple cavities. The medical history reveals that patient had Ovarian cyst + ovary removed in 2020. The current medication is Zyrtec, Nasacort, Melatonin with no reported drug allergies. Clinical and radiographic examination revealed brachyfacial face, concave profile with multiple carious teeth. This report will include clinical and radiographic findings associated with Smith Magenis syndrome.