Genetic disorders in the newborn infant.

Canadian family physician Medecin de famille canadien

PubMedID: 21253098

Meschino WS, Summers AM. Genetic disorders in the newborn infant. Can Fam Physician. 1988;34909-13.
Genetic disorders in the neonate should be suspected in a number of different clinical situations, ranging from that of an infant with dysmorphic features and multiple congenital malformations to that of a previously well newborn who becomes acutely ill. An approach for the primary-care physician to the initial investigation and management of these situations is outlined. In addition neonatal screening tests for metabolic disorders and congenital hypothyroidism are briefly discussed.