RESUMO
Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS) are 2 opposite growth-affecting disorders. The common molecular cause for both syndromes is an abnormal regulation of genes in chromosomal region 11p15, where 2 imprinting control regions (ICR) control fetal and postnatal growth. Also, many submicroscopic chromosomal disturbances like duplications in 11p15 have been described among SRS and BWS patients. Duplications involving both ICRs cause SRS or BWS, depending on which parent the aberration is inherited from. We describe to our knowledge the smallest familial pure 1.3-Mb duplication in chromosomal region 11p15.5p15.4 that involves both ICRs and is present in 3 generations causing an SRS or BWS phenotype.
RESUMO
The aim of this prospective cohort study was to evaluate the influence of different antenatal factors on neurologic signs in the first days of life and neurodevelopmental outcome at 2 years of age. The study group consisted of 390 children drawn from a cohort of 828 consecutive live births. The data about potential antenatal risk factors, birth complications, and neonatal course were abstracted from pregnancy and delivery records and the hospital register. Odds ratio estimates with 95% confidence intervals were used to measure the associations between antenatal factors and neurologic status in newborns and at 2 years of age. Significance level was set at P < .05. At the mean age of 2 years, 49 of 390 children exhibited adverse neurodevelopmental outcome (cerebral palsy and other developmental disorders). The development of 341 children was normal. Comparative analysis of risk factors was conducted. The strongest correlation with development of hypoxic-ischemic encephalopathy during the first days of life was found in trichomoniasis during pregnancy (odds ratio 4.34; 95% confidence interval 1.32-14.23) and acute respiratory disease (temperature > or = 38 degrees C) in the second half of pregnancy (odds ratio 2.86; 95% confidence interval 1.08-7.58). Of various antenatal factors, bacterial vaginosis combined with impending abortion in the first half of pregnancy (odds ratio 4.96; 95% confidence interval 1.35-18.26) had a significant association with adverse outcome at 2 years of age. The presence of at least one complication at delivery placed the child at risk of adverse neurologic outcome (odds ratio 2.44; 95% confidence interval 1.32-4.54). The study provides supportive evidence that antenatal factors associated with maternal infections can influence the development of hypoxic-ischemic encephalopathy and later neurodevelopmental outcome. These children should be assigned to risk groups for early intervention.