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Case Reports
. 1992 Jul;1(3):161-4.

Chondrodysplasia punctata: further evidence of heterogeneity

A M Norman  1 , S Jivani, H M Kingston
Affiliations
  • PMID: 1342864
Case Reports

Chondrodysplasia punctata: further evidence of heterogeneity

A M Norman et al. Clin Dysmorphol. 1992 Jul.

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.

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