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Abnormality of the upper limb
- Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems.People with Holt-Oram syndrome have abnormally developed bones in their upper limbs. At least one abnormality in the bones ...
- ... third major feature of Klippel-Trenaunay syndrome. These abnormalities include ... Veins deep in the limbs can also be abnormal in people with Klippel- ...
- ... some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Pronounced bowing of the upper leg bones (femurs) gives them a "boomerang" shape. ...
- ... These myoclonic jerks typically occur in the torso; upper and lower limbs; and ... by abnormalities in the inner ear (sensorineural hearing loss). Severe ...
- ... the lower limbs. The dystonia spreads to the upper limbs over time; ... called parkinsonism. These abnormalities include unusually slow movement ( ...
- ... on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals.People with Poland syndrome ...
- ... Individuals with Peters plus syndrome also have shortened upper limbs (rhizomelia) and shortened fingers and toes (brachydactyly).The ... Peters plus syndrome include heart defects, structural brain abnormalities, hearing loss, and kidney or genital abnormalities. Peters ...
- ... sonographic diagnosis of Nager acrofacial dysostosis with unilateral upper limb involvement. Prenat Diagn. 2008 Oct;28(10):964- ...
- ... involve the lower limbs and can affect the upper limbs to a lesser degree. Complex spastic paraplegias also ... nystagmus). The onset of symptoms varies greatly; however, abnormalities in muscle tone and difficulty walking usually become ...
- ... lower limbs are most often affected, although the upper limbs can also be involved. Affected individuals can have ... disorders, but they are the primary muscle cell abnormality in tubular aggregate myopathy. Tubular aggregate myopathy is ...