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Medical Encyclopedia |
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Definition Return to top
Skeletal limb abnormalities refer to a variety of bone structure problems in the arms or legs (limbs).
Considerations Return to top
Skeletal limb abnormalities are most often used to describe defects in the legs or arms that are associated with your genes or chromosomes, or that occur due to an event that happens during pregnancy.
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.
Causes Return to top
Skeletal limb abnormalities may be due to:
When to Contact a Medical Professional Return to top
Call your health care provider if you have any concerns about limb length or appearance.
What to Expect at Your Office Visit Return to top
An infant with limb abnormalities generally has other symptoms and signs that, when taken together, define a specific syndrome or condition or give a clue as to the cause of the abnormality. Diagnosis of that condition is based on a family history, medical history, and thorough physical evaluation.
Medical history questions may include:
Laboratory studies such as chromosome studies, enzyme assays, x-rays, and metabolic studies may be done to confirm a suspected disorder.
References Return to top
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.
Update Date: 3/14/2009 Updated by: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
