Multiple mutations of surfactant genes causing surfactant dysfunction have been described. Surfactant protein C (SP-C) deficiency is associated with variable clinical manifestations ranging from neonatal respiratory distress syndrome to lethal lung disease. We present an extremely low birth weight male infant with an unusual course of respiratory distress syndrome associated with two mutations in the SFTPC gene: C43-7G>A and 12T>A.
View Article and Find Full Text PDFCholestatic jaundice is a well-known complication of gram-negative bacterial infections in the neonates. Newborn and premature infants are particularly vulnerable to cholestasis because of immaturities in bile forming mechanisms. The Authors describe two premature infants who developed cholestasis in the course of a proved bacterial infection by Klebsiella pneumoniae.
View Article and Find Full Text PDFEpidemiological and genetic variables in hypospadias were analysed during the years 1978 to 1983 in a case control study of congenital malformations in the Emilia Romagna region of northern Italy. During the observation period, in a sample of 41 078 male newborns, 168 had hypospadias giving a prevalence at birth of 4.1 in 1000 males.
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