Upper-extremity congenital anomalies.

Abstract

•Embryogenesis of the upper extremity occurs between the fourth and eighth week of gestation and is guided by signaling centers within the developing limb bud. •Certain upper-limb anomalies are associated with concomitant systemic disorders, whereas others occur in isolation or in combination with other musculoskeletal problems. •Radial deficiency is associated with Holt-Oram syndrome, thrombocytopenia-absent-radius syndrome, VACTERL association (vertebral abnormalities, anal atresia, cardiac abnormalities, tracheoesophageal fistula, esophageal atresia, renal defects, radial dysplasia, lower-limb abnormalities), and Fanconi anemia. •A chromosomal challenge test is currently available to detect Fanconi anemia prior to the onset of aplastic anemia, which allows additional time to search for a suitable bone-marrow donor. •Postaxial polydactyly is frequently inherited in an autosomal dominant pattern but has a variable penetrance pattern. A small nubbin or rudimentary postaxial element can be safely removed by tying its base in the nursery. Congenital anomalies affect 1% to 2% of newborns, and approximately 10% of those children have upper-extremity abnormalities 1,2. The anomalies require an accurate diagnosis and communication of relevant information to the family. The era of managed care has changed the patterns of referral of children with limb anomalies. Frequently, the child is referred directly to the orthopaedic surgeon by the pediatrician. This referral pattern has placed an added burden on the orthopaedic surgeon, who may have to deal with an anomaly for which there has not been a sufficient workup and counsel parents who are desperate for information. The clinician must possess a basic understanding of embryogenesis, limb formation, and inheritance patterns to relay relevant knowledge to the family. Certain upper-extremity anomalies occur in isolation, whereas others are associated with systemic conditions. These associated disorders often take precedence over the limb anomaly and must be assessed with appropriate diagnostic testing. The purpose of this review is to provide …