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Skeletal limb abnormalities

• Overview

Definition:

Skeletal limb abnormalities refer to a variety of bone structure problems in the arms or legs (limbs).

Considerations:

Skeletal limb abnormalities are most often used to describe defects associated with your genes, chromosomes, or that occur during pregnancy. They may be due to problems experienced by a fetus before birth. For example, exposure to drugs and medications, infections, positioning, or injury.

The abnormalities are often present at birth.

Limb abnormalities can develop after birth in persons who have rickets and other diseases that affect bone structure.

Common Causes:

Skeletal limb abnormalities may be due to:

• Metabolic diseases
• Malnutrition
• Genetic diseases and chromosomal abnormalities, including Marfan syndrome , Down syndrome , Apert syndrome , Basal cell nevus syndrome , and other conditions
• Pregnancy problems, including limb amputation from amniotic band (disruption sequence)
• Drugs the mother took while pregnant -- for example, thalidomide causes the upper part of the arms or legs to be missing; aminopterin causes shortness of the forearm
• Injury during birth
• Cancer

References:

Knobloch J, Shaughnessy Jr JD, Ruther U. Thalidomide induces limb deformities by perturbing the Bmp/Dkk1/Wnt signaling pathway. FASEB J . 2007 Feb 5; [Epub ahead of print].

Canale ST. Campbell's Operative Orthopaedics . 10th ed. St. Louis, Mo: Mosby; 2003:1043.

• Review Date: 3/9/2007
• Reviewed By: Thomas N. Joseph, MD, Private Practice specializing in Orthopaedics, subspecialty Foot and Ankle, Camden Bone & Joint, Camden, SC. Review provided by VeriMed Healthcare Network.

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