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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 documenting skeletal limb abnormality in detail may include:
- Family history
- Have any family members had similar skeletal abnormalities?
- Is there any family history of a disorder associated with skeletal limb abnormality (see common causes in this document).
- History of the pregnancy
- Were there any troubles with the pregnancy?
- What drugs or medications were taken during the pregnancy?
- Other
- What other symptoms or abnormalities are also present?
Laboratory studies such as chromosome studies, enzyme assays, X-rays, and metabolic studies may be ordered to confirm the presence of a suspected disorder.
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