Skeletal limb abnormalities
When to Contact a Medical Professional
Call your health care provider if you have any concerns about limb length or appearance.
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:
- Does anyone in your family have skeletal abnormalities?
- Were there any problems during pregnancy?
- What drugs or medications were taken during the pregnancy?
- What other symptoms or abnormalities are present?
Laboratory studies such as chromosome studies, enzyme assays, x-rays, and metabolic studies may be done to confirm a suspected disorder.
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.
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