View phenotype #0000000195

Individual ID 00000191
Associated disease AI unclassified
Phenotype details Teeth appeared small and varied between areas of opaque white enamel with yellow-brown discolourations to teeth that were very yellow brown in colouration. Small tooth size gave an appearance of increased tooth spacing in most cases. Two affecteds had abnormal second mandibular and maxillary molars that were heart-shaped with only three major cusps. Radiographically, teeth had a decreased enamel thickness and an increased pulp chamber dimension. The molar teeth had varying degrees of apical displacement of the root furcation resulting in taurodontism. Molar taurodontism ranged from normal (cynodont) to mesotaurodont morphology, none were hypertaurodont. One had essentially normal pulp morphology but had severely abnormal enamel and markedly yellow-brown discolouration of the teeth. Cephalometric radiographs showed no markedly increased bone density, obliteration of the diplöe or mastoid air cells, or frontal sinus. Affected adults statistically significant increase in spine BMD compared with unaffecteds. The increase in hip BMD was approaching a significant level (P = 0.08), whereas the total femur, femoral neck, wrist, and full body BMD did not show significant differences. Affecteds had coarse, unruly hair compared with the unaffecteds. Electron microscopy showed smaller diameter hair shafts compared with unaffecteds. Hair shafts in the affecteds frequently displayed abnormal shaft morphology with horizontal grooves.
Inheritance Familial, autosomal dominant
Owner name Claire Smith