TY - JOUR T1 - Perinatal onset of severe congenital erythropoietic porphyria JF - Archives of Disease in Childhood - Fetal and Neonatal Edition JO - Arch Dis Child Fetal Neonatal Ed DO - 10.1136/archdischild-2021-322301 SP - fetalneonatal-2021-322301 AU - Amal Khalouaoui AU - Josephine Piarroux AU - Gaelle Sorin AU - Marjolaine Oger AU - Claire Nicaise AU - Barthélémy Tosello Y1 - 2021/06/28 UR - http://fn.bmj.com/content/early/2021/06/28/archdischild-2021-322301.abstract N2 - Female full-term (39 weeks’ gestation) neonate born of non-consanguineous healthy young white couple is admitted to neonatal intensive care unit with an acute respiratory distress syndrome. Prenatal ultrasound at 25 weeks of gestation revealed an increased nuchal translucency and a myocardial hypertrophy. The antenatal explorations found no aetiology (fetal DNA was analysed by comparative genomic hybridisation-array platform).At birth, she had multiple ecchymosis all over her … ER -