Oral findings in patients with autosomal dominant hypophosphatemic bone disease and X-linked hypophosphatemia: further evidence that they are different diseases.
Oral examinations were performed on 5 patients with hypophosphatemic bone disease (HBD) (2 males and 3 females), 14 patients with X-linked hypophosphatemia (XLH), and 4 affected XLH relatives (6 males and 12 females). The control subjects were the unaffected siblings and parents of the patients and unrelated healthy, gender- and age-matched subjects. Serum phosphorus values were the same by disease type and gender in patients with HBD and XLH. They shared certain dental abnormalities, in particular pulpal necrosis and large pulp spaces. However, only patients with XLH had Class III malocclusions and mild enamel defects, and males with XLH had more severe occlusal and enamel defects than females with XLH. Different dental phenotypes are further evidence that XLH and HBD are different diseases. The dental abnormalities were not prevented by treatment, instituted early in life, which raised serum phosphorus to the near normal range.
Schwartz
S
S
Department of Dentistry, Montreal Children's Hospital, Quebec, Canada.
Scriver
C R
CR
Reade
T M
TM
Shields
E D
ED
D000293:Adolescent; D000328:Adult; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000235:genetics*; D008297:Male; D010641:Phenotype; D014071:Tooth Abnormalities / Q000209:etiology*; D014076:Tooth Diseases / Q000209:etiology*; D014960:X Chromosome