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 fami ly where first-cousin marriages have caused numerical and structural d ental abnormalities linked to autosomal recessively inherited liver di seases. The two latest affected children in this family have had their liver defect successfully treated with fat-soluble vitamins and cheno deoxycholic acid, enabling us to study their dental development. One b oy exhibits 11 supernumerary teeth, a general hypomineralisation and e namel hypoplasia, while an affected cousin successfully diagnosed at a n early age, so far, only suffers from structural enamel defects. The children are otherwise healthy. There is no resemblance to any known s yndromes. We suggest that the supernumerary teeth and the Liver diseas e are caused by the same genetic defect, and represent a new associati on. The hypomineralisation, however, is most likely to result from vit amin deficiency secondary to malabsorption during the first years of l ife, before successful treatment was instituted.