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Skeletal limb abnormalities

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Skeleton The skeleton (lateral view)

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Skeletal limb abnormalities

Definition:

Skeletal limb abnormalities is a very broad descriptive term. There are a variety of possible abnormalities of the arms or legs (limbs) that can be caused by underlying defects in the skeletal structure.

Considerations:

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Skeletal limb abnormalities may result from:

• Metabolic diseases
• Malnutrition (inadequate amounts of a vitamin, protein, calcium, or other nutrients)
• Genetic diseases and chromosomal abnormalities
• Problems experienced by a fetus before birth -- exposure to drugs and medications, infections, positioning, or injury
• Birth trauma
• Cancers

The term is most often used to describe defects associated with genetic, chromosomal, and intrauterine events and is often present at birth. Limb abnormalities can develop after birth as in the case of rickets, renal rickets, and other diseases that can cause profound changes in the skeletal structure after birth.

Common Causes:

• Genetic and chromosomal
  • Marfan's syndrome
  • Achondroplasia
  • Ellis-van Creveld syndrome
  • Poland sequence
  • Down's syndrome
  • Prader-Willi syndrome
  • Basal cell nevus syndrome
  • Trisomy 13
  • Rubinstein-Taybi syndrome
  • Apert syndrome
• Fetal exposure to drugs or medications
  • Thalidomide causes the upper part of the arms or legs to be missing
  • Aminopterin causes shortness of the forelimb
• Intrauterine conditions
  • Limb amputation from amniotic band (disruption sequence)
  • Club foot

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