ABSTRACT
Papillorenal syndrome, also known as renal coloboma syndrome, is characterised by congenital optic disc anomalies and renal abnormalities. Mutations in the PAX2 gene, which plays a critical role in embryogenesis, cause this syndrome. Other related anomalies are less commonly observed. To our knowledge, this is the first case reported in the literature in which Papillorenal syndrome accompanied various dysmorphic features.
Subject(s)
Coloboma , Renal Insufficiency , Vesico-Ureteral Reflux , Coloboma/diagnosis , Humans , PAX2 Transcription FactorABSTRACT
Objectives: The primary aim of the present study was to investigate the survival rates of periviable births in a referral Level III NICU center in Turkey; the secondary aim was to determine the perinatal and natal risk factors related to mortality.Methods: This retrospective cross-sectional study was conducted at the Neonatal Intensive Care Unit between 1 January 2011 and 31 December 2015. All live deliveries occurring from 22 0/7 weeks to 25 6/7 week of gestation were included in the study (total n = 165). We documented prenatal, natal, and postnatal clinical processes in each case and assessed morbidity, mortality, and factors related to long-term prognosis.Results: While none of the infants born at 22 weeks of gestation survived until discharge, the survival rates for those admitted to the NICU were 7.5% for infants born at 23 weeks, 29.1% at 24 weeks, and 43.5% at 25 weeks. A total of 46 survived (27.9%), and follow-up data beyond 12 months were available for 22. The prevalence of neurodevelopmental impairment or neurosensory impairment was inversely associated with gestational age.Conclusions: The most important risk factors associated with mortality in periviable infants were SNAPPE score, antenatal corticosteroid use, and gestational age.
