2018 Volume 39 Issue 1 Pages 38-44
Smith-Magenis syndrome （SMS） is caused by a deletion in region 17p11.2, which includes the RAI1 gene, or by point mutation in the RAI1 gene. SMS is characterized by craniofacial anomalies, as well as neurological, behavioral and sleep disorders. Reported oral characteristics are congenital missing teeth, taurodontism and dilacerations, however, in Japan there are few reports of orofacial manifestations. We aimed to survey general and oral characteristics from nine cases of SMS between age 5 and 18 years old.
Results：1） All cases had moderate mental retardation. 2） Behavioral problems were sleep disorder （9/9）, panic attack （9/9） and self-injurious behavior （8/9）. 3） All cases had synophrys, upslanting palpebral fissures and everted upper lip as craniofacial manifestations. 4） Most common oral findings were taurodontism （9/9）, congenital missing teeth （2/9）, and dilacerations of the tooth root （2/9）.
Conclusions：Behavioral problems such as mental retardation, sleep disorders and panic attack require special consideration in dental examination and oral hygiene management.
