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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 ...
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.
Generally, diseases outlined within the ICD-10 codes Q65-Q79 within Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities should be included in this category. Wikimedia Commons has media related to Congenital diseases and disorders of musculoskeletal system .
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).
Coxa vara is a deformity of the hip, whereby the angle between the head and the shaft of the femur is reduced to less than 120 degrees. This results in the leg being shortened and the development of a limp.
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]
A dysostosis (from Ancient Greek δῠσ- (dys-) 'bad, difficult' and ὀστέον (ostéon) 'bone') is a disorder of the development of bone, in particular affecting ossification. [1] Examples include craniofacial dysostosis, Klippel–Feil syndrome, and Rubinstein–Taybi syndrome.
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]