Congenital Malformations, Musculoskeletal System

Congenital malformations are the leading cause of infant mortality in the United States and a major cause of morbidity and mortality throughout childhood. The children with major congenital malformations represent approximately 4% of live births with a higher rate in males than females (4.6% vs. 3.1%), and a higher rate in black children than white children (4.4% vs. 3.8%) ( 1). Twenty percent of infant deaths are attributed to congenital malformations, a percentage that has increased over time.

Little is known about the causes of congenital malformations. Twenty percent may be due to a combination of heredity and other factors; 7.5% may be due to single‐gene mutations; 6% to chromosome abnormalities; and 5% to maternal illnesses, such as diabetes, infections, or anticonvulsant drugs. Fourty to sixty percent of congenital malformations are of unknown origin.

Associations between congenital malformations and environmental agents have been described for radiation exposure, intrauterine...