Results 1 - 10 of 53 for "muscle," "absence," congenital
  1. Muscular Dystrophy: Hope Through Research (National Institute of Neurological Disorders and Stroke)  
    ... may include difficulty swallowing or sucking, impaired breathing, absence of reflexes, skeletal deformities and contractures (such as club feet), and muscle weakness, especially in the face. Children with congenital myotonic MD may also experience mental impairment and ...
  2. ... fiber and within the cell help to keep muscle cells working properly. When one ... forms of congenital muscular dystrophy arise from defects in proteins in ...
  3. Thoracic Insufficiency Syndrome (Scoliosis Research Society)  
    ... for them to move properly, and the diaphragm muscle must be properly anchored at the base of the chest. In congenital scoliosis, there can be missing or fused ribs. When there is an absence of ribs of the chest wall, the underlying ...
  4. ... failure and sudden death. People with Berardinelli-Seip congenital lipodystrophy have a distinctive physical appearance. The combination of an almost total absence of adipose tissue and an overgrowth of muscle tissue makes these individuals appear very muscular. They ...
  5. Genetics Home Reference: Congenital afibrinogenemia From the National Institutes of Health (National Library of Medicine)  
    ... can occur after minor trauma or in the absence of injury (spontaneous bleeding). Some ... can have abnormally heavy menstrual bleeding (menorrhagia). ...
  6. Learning about Poland Anomaly (National Human Genome Research Institute)  
    ... anomaly (PA) is described as an underdevelopment or absence of the chest muscle ... at birth (congenital). For people born with PA, the breastbone portion ( ...
  7. ... Reviewed September 2013 What is congenital diaphragmatic ... to its complete absence. An absent or partially formed diaphragm results in ...
  8. Neurological Diagnostic Tests and Procedures From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    ... blood can help diagnose Huntington’s disease and other congenital ... presence or absence of certain proteins that cause diseases including the ...
  9. Nystagmus (American Optometric Association)  
    ... often associated with other conditions such as albinism, congenital absence of the iris (the colored part of the eye), underdeveloped optic nerves, and congenital cataract. Spasmus nutans - usually occurs between 6 months ...
  10. About Neurofibromatosis 1 (Children's Tumor Foundation) - PDF  
    ... often in the skull and limbs. They include: • Congenital absence, or partial absence, of the sphenoid bone (the bone normally surrounding the orbit of the eye), also known as sphenoid wing dysplasia. This may cause slight bulging of the ... • Congenital bowing of the leg bones, called tibial dysplasia, ...
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