pediatrics
Congenital Limb Abnormalities
Diagnosis of Congenital Limb Abnormalities
Usually x-rays Sometimes genetic testing Typically, x-rays are done to determine which bones are involved. When defects appear to be familial or if a genetic syndrome is suspected, evaluation should also include a thorough assessment for other physical, chromosomal, and genetic abnormalities. When available, assessment by a clinical geneticist is useful. Diagnosis , specific gene tests, or broader gene panel tests should be considered in the evaluation of patients with congenital musculoskeletal abnormalities. If the results of these tests are nondiagnostic, whole exome sequencing analysis is recommended. 