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Platybasia is a spinal disease of a malformed relationship between the occipital bone and cervical spine. It may be caused by Paget's disease. Platybasia is also a feature of Gorlin-Goltz syndrome, commonly known as basal cell nevus syndrome. It may be developmental in origin or due to softening of the skull base bone, allowing it to be pushed ...
Fibrodysplasia ossificans progressiva (/ ˌ f aɪ b r oʊ d ɪ ˈ s p l eɪ ʒ (i) ə ɒ ˈ s ɪ f ɪ k æ n z p r ə ˈ ɡ r ɛ s ɪ v ə /; [1] abbr. FOP), also called Münchmeyer disease or formerly myositis ossificans progressiva, is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue (ossification).
Osteogenesis imperfecta (IPA: / ˌ ɒ s t i oʊ ˈ dʒ ɛ n ə s ɪ s ˌ ɪ m p ɜːr ˈ f ɛ k t ə /; [4] OI), colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily. [1]: 85 [9] The range of symptoms—on the skeleton as well as on the body's other organs—may be mild to severe.
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]
The disease was first described by Maroteaux and Lamy in 1962 [4] [5] at which time it was defined by the following characteristics: dwarfism; osteopetrosis; partial agenesis of the terminal digits of the hands and feet; cranial anomalies, such as persistence of fontanelles and failure of closure of cranial sutures; frontal and occipital bossing; and hypoplasia of the angle of the mandible. [6]
Disease occurs along a broad clinical spectrum ranging from mostly asymptomatic incidental lesions, to severe disabling disease. Disease can affect one bone , multiple (polyostotic), or all bones (panostotic) [4] [5] and may occur in isolation or in combination with café au lait skin macules and hyperfunctioning endocrinopathies, termed McCune ...
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 ...
Multiple epiphyseal dysplasia (MED), also known as Fairbank's disease, is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate (epiphyseal plate) near their ends.