Genetic Counseling and Oral Examination

This chapter reviews single gene inheritance patterns and provides an overview of genetic counseling and oral examination. Many heritable syndromes have distinctive oral manifestations that aid the diagnostician. The chapter provides a brief review of the normal oral configuration and some of the frequent variations from normal. Two indispensable aids are needed to perform an accurate oral examination: (1) an intraoral mirror and (2) good illumination. Manifestations of inherited disorders may occur in any area of the oral cavity and therefore, a systematic approach to clinical inspection is recommended. The mouth is divided into two parts: (1) the vestibule and (2) the oral cavity proper. The vestibule is bound by the teeth and gingiva on the one side and by the buccal and labial mucosae on the other. The roof and floor of this area are known as the vestibular sulci. Within the sulcus, frenulas are normally seen in the anterior maxilla and mandible, extending from the lip to the gingival mucosa. Whitening of the oral soft tissues, generally known as leukoplakia, is also associated with some inherited disorders. Other white conditions are also frequently found. The chapter additionally presents a brief summary of some intraoral radiologie landmarks.