Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate

C. Wollny, L. Gortner & S. Meyer
Background and study purpose: Chondrodysplasia punctata (CDP) is a heterogenous group of skeletal dysplasias. The hallmark of CDP is aberrant bone mineralization, manifesting radiologically as epiphyseal stippling. Among this group of skeletal dysplasia, brachytelephalangic CDP (BCDP) is probably under-reported.[for full text, please go to the a.m. URL]