Rhizomelic chondrodysplasia punctata type 2
This 5-year-old female is one of twins with rhizomelic chondrodysplasia punctata type 2. This X-linked disorder is characterized by midface hypoplasia, high arched palate, ocular abnormalities and symmetric or asymmetric shortening of the long bones. The epiphyses and vertebral bodies are stippled. In this example, severe abnormalities of the cervical vertebral bodies have lead to occipitalization of C1, C2 instability and kyphosis of C5-6.
Copyright © Jeanne Chow, MD.
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