A simple score to facilitate detection of congenital disorders.
A simple score has been constructed to facilitate the selection of apparently normal newborns at risk or hidden congenital disorders. Components of the score are family history of previous malformations, stillbirth or infantile death of unknown origin, intrauterine growth retardation (2 points each), and six minor malformations: antimongoloid palpebral slant, hypertelorism, preauricular fistula, simian crease, mammillary and hallucal abnormality (1 point each). Out of 1000 consecutive neonates screened with the method 28 scored 3 or more, in 6 of whom hidden congenital abnormalities were discovered at later reexamination. At the same time only 2 hidden defects were found in the children with a neonatal score of 2 or less. Although the follow-up was incomplete, the results suggest that the score is useful in selecting infants for more complicated clinical and genetic investigations.
D001659:Biliary Tract / Q000002:abnormalities; D000013:Congenital Abnormalities / Q000175:diagnosis*; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006801:Humans; D006869:Hydronephrosis / Q000175:diagnosis; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities; D008297:Male; D008722:Methods; D011704:Pyelonephritis / Q000175:diagnosis; D014513:Ureter / Q000002:abnormalities; D014718:Vesico-Ureteral Reflux / Q000175:diagnosis