Related Experiment Videos
Chondrodysplasia punctata: further evidence of heterogeneity
A M Norman1, S Jivani, H M Kingston
1Regional Genetic Service, St Mary's Hospital, Manchester, UK.
Clinical Dysmorphology
|July 1, 1992
Abstract:
We describe a patient with chondrodysplasia punctata. He had stippled epiphyses and coronal clefting of the vertebral bodies. No peroxisomal abnormalities were detected. His facial appearance and X-rays were suggestive of the Sheffield type of chondrodysplasia punctata. This type of chondrodysplasia punctata appears to be a heterogeneous group.