Familial hypophosphatemic rickets is a hereditary disease characterized by the involvement of several family members, transmitted in most cases as an X-linked dominant trait. Oral manifestations can be the first evidences for an adequate and early diagnosis of X-linked hypophosphatemic rickets (XLHR). The present report describes the main systemic manifestations, oral findings and dental management in three generations of an affected family. Oral exams, laboratorial and histologic evaluations, cone-beam computed tomographies, panoramic and periapical radiographs were performed to properly institute the most adequate treatment strategy. The knowledge of clinical signs and symptoms of XLHR is essential for the correct diagnosis of this disease, and for the establishment of preventive and comprehensive dental care.
©2012 Special Care Dentistry Association and Wiley Periodicals, Inc.