Genetic disorders in the newborn infant.
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.
W S
WS
Meschino
A M
AM
Summers
Eur J Pediatr. 1985 Mar;143(4):253-7
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