overlapping phenotype punctata (CDPX2): presentation of two cases with dominant Conradi-Hünermann chondrodysplasia Greenberg dysplasia (HEM) and lethal X linked

X linkeddominant chondrodysplasia punctata (Conradi–Hu¨nermannsyndrome) mainly affects females and is characterised byaberrant punctate calcification of cartilage or stippling of theepiphyses, mainly in the areas of the vertebral column, pelvis,and long bones. There is asymmetrical shortening of the longbones, patchy skin changes (follicular atrophoderma),ichthyosis, areas of alopecia, and cataracts. The severityvaries from the a lethal form to a mild disease affectingadults who are sometimes diagnosed only after having anaffected child.