Diagnosis of Conradi-H&#252;nermann-Happle syndrome was confirmed by plasma sterol analysis showing markedly elevated levels of 8(9)-cholestenol and 8-dehydrocholesterol and by detection of a missense mutation (c.307G&gt;A; p.E103K) in the emopamil-binding protein gene.
C0282102
Chondrodysplasia punctata, X-linked dominant type