Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes.

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.

Antenatal risk factors associated with unfavorable neurologic status in newborns and at 2 years of age.

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.