This study highlights the significance of monitoring cardiac functions in newborns with HIE. ECG changes and serum Troponin I level at 72 h after birth are likely to have significant predictive value in the assessment of mortality in HIE. Further studies will provide additional data for the long-term prognostic value of cardiac functions in this disorder.

No abstract

We describe the clinical features of Robinow syndrome in the children of four Turkish couples. All the patients had cardinal features of this condition, such as short stature, frontal bossing, hypertelorism, short upturned nose with anteverted nares, micrognathia, mesomelic shortening of the forearms, vertebral and costal anomalies and hypoplastic genitalia. In contrast to reports in the literature, one patient showed extensive webbing of the toes and epigastric hernia. Parental consanguinity was present in two of the four cases. To our knowledge, at least 80 cases have been reported in the literature to date, including 19 cases born to Turkish couples in addition to our four cases. The evidence suggests that the frequency of Robinow syndrome is relatively higher in Turkey than in other areas of the world.

Adrenal hypoplasia congenita (AHC) is a rare inherited disorder of the adrenal cortex commonly manifested as an early onset adrenal insufficiency syndrome. A novel DAX1 (NR0B1) gene mutation was detected in a Turkish newborn boy presenting with primary adrenal insufficiency. He was from a family with a history of unexplained death of three male siblings in the neonatal period. This report highlights the value of mutational analysis of the DAX1 gene for definitive diagnosis of AHC as well as for genetic counselling because this disorder shows an X-linked genetic pattern of transmission, providing the possibility of finding new cases even in presymptomatic individuals.

Two hundred and nineteen healthy newborns were vaccinated with the BCG vaccine, and their immunity was checked thereafter at 3, 6 and 12 months of age. We determined that 87% of tuberculin reactivity at 3 months declined to 61% at 12 months. Revaccination of nonreactive infants provided a 100% rate of reactivity. In the light of this information we propose a revision in the BCG vaccination programme in developing countries. We also found a close relationship between the tuberculin reactivity and scar formation after BCG vaccination, suggesting that a simple check of the left deltoid region for a BCG scar may give enough information about the child's immunity to tuberculosis.