CONDRODISPLAZIE PUNCTATA / chondrodysplasie ponc- tuee / stippled epiphysis disease, chondrodystrophia cal- cificans congenita, dysplasia epiphysial is punctata. Varie- tate de c. cu transmitere dominanta, care determina nanism micromelic, uneori asimetric, cu ihtioza cutanata, cataracta, dis- morfie faciala si calcificari multiple In regiunile periarticulare, rezultand un aspect radiologic ,,punctat”. A fost descrisa o forma esential rizomelica, cu retard mental si transmitere rece-siva. Sin.: sindrom Conradi-Hunermann, boala Conradi-Huner-mann, boala congenitala a epifizelor punctate, condrodistrofie caldfianta congenitala.
