Bone and Soft-Tissue Disorders
dominant inheritance
Age: onset in 2nd decade; M÷F = 3÷1
- sensory changes in hands + feet
- destruction of nails; joint hypermobility
- swelling of plantar of foot with deep wide ulcer + ejection of bone fragments
- Skull
- wormian bones
- craniosynostosis
- basilar impression
- protuberant occiput
- resorption of alveolar processes + loss of teeth
- Spine
- spinal osteoporosis ± fracture
- kyphoscoliosis + progressive decrease in height
DDx: Hyperparathyroidism