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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 ...
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 ]
Craniofrontonasal dysplasia (craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very rare X-linked malformation syndrome caused by mutations in the ephrin-B1 gene . [ 1 ] [ 2 ] Phenotypic expression varies greatly amongst affected individuals, where females are more commonly and generally more severely affected than males.
Fibrous dysplasia is a rare congenital disease of the bone that often affects the cranial facial structures, Dr. Netanel Ben-Shalom, a nuerosurgeon, at Northwell Lenox Hill Hospital, tells TODAY ...
Polyostotic fibrous dysplasia is a form of fibrous dysplasia affecting more than one bone. [2] Fibrous dysplasia is a disorder where bone is replaced by fibrous tissue, leading to weak bones, uneven growth, and deformity. [3] McCune–Albright syndrome includes polyostotic fibrous dysplasia as part of its presentation. [4]
Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull (craniosynostosis), which affects the shape of the head and face.
Craniofacial abnormalities are congenital musculoskeletal disorders which primarily affect the cranium and facial bones. [ 1 ] They are associated with the development of the pharyngeal arches . [ 2 ]
Craniofacial dysostosis-diaphyseal hyperplasia syndrome is a rare genetic disorder characterized by craniofacial dysostosis, small cranium with accompanying thin ...