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Fibrous dysplasia is a very rare [2] nonhereditary genetic disorder where normal bone and marrow is replaced with fibrous tissue, resulting in formation of bone that is weak and prone to expansion. As a result, most complications result from fracture , deformity, functional impairment, pain, and the impingement of nerves. [ 3 ]
All patients with known or suspected McCune–Albright syndrome should undergo a screening evaluation for fibrous dysplasia. [18] Nuclear medicine tests such as technetium-99 scintigraphy are the most sensitive way to detect fibrous dysplasia lesions. [19] CT scan of the skull is the most useful test to evaluate craniofacial fibrous dysplasia ...
Craniodiaphyseal dysplasia (CDD), also known as lionitis, is an extremely rare autosomal recessive bone disorder that causes calcium to build up in the skull, disfiguring the facial features and reducing life expectancy. These calcium deposits decrease the size of cranial foramina, and can decrease the circumference of the cervical spinal canal ...
Leontiasis ossea, also known as leontiasis, lion face or lion face syndrome, is a rare medical condition, characterized by an overgrowth of the facial and cranial bones. It is not a disease in itself, but a symptom of other diseases, including Paget's disease, fibrous dysplasia, hyperparathyroidism and renal osteodystrophy.
Acrodysostosis is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, intellectual disability in approximately 90% of affected children, and peculiar facies.
Craniofacial abnormalities are congenital musculoskeletal disorders which primarily affect the cranium and facial bones. [1] They are associated with the development ...
Craniofacial dysostosis-diaphyseal hyperplasia syndrome is a rare genetic disorder characterized by craniofacial dysostosis, small cranium with accompanying thin ...
This disorder was first discovered in 1988 by Kaplan et al. when they described two sisters born to consanguineous parents with all the symptoms mentioned above. They suggested this disorder to be inherited in an autosomal recessive fashion.