Chondrodysplasia Punctata Syndrome

Clinical Features

Toriello et al. (1993) described a possibly unique chondrodysplasia punctata syndrome with, in addition to stippled epiphyses, mild facial anomalies, short stature, and ocular colobomata. Two sibs, a 10-year-old female and a 2-year-old male, were affected. The parents were healthy and nonconsanguineous.

Ciske et al. (1998) described a child with chondrodysplasia punctata and clinical findings resembling those of the sibs described by Toriello et al. (1993). The girl also had complex congenital heart disease and central nervous system anomalies, thus expanding the phenotype.