Severe dental aberrations in familial steroid dehydrogenase deficiency: a new association.

Severe numerical dental aberrations are rare, and are most often seen as a part of certain syndromes. We here report on a Saudi Arabian family where first-cousin marriages have caused numerical and structural dental abnormalities linked to autosomal recessively inherited liver diseases. The two latest affected children in this family have had their liver defect successfully treated with fat-soluble vitamins and chenodeoxycholic acid, enabling us to study their dental development. One boy exhibits 11 supernumerary teeth, a general hypomineralisation and enamel hypoplasia, while an affected cousin successfully diagnosed at an early age, so far, only suffers from structural enamel defects. The children are otherwise healthy. There is no resemblance to any known syndromes. We suggest that the supernumerary teeth and the liver disease are caused by the same genetic defect, and represent a new association. The hypomineralisation, however, is most likely to result from vitamin deficiency secondary to malabsorption during the first years of life, before successful treatment was instituted.