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Perinatal onset of severe congenital erythropoietic porphyria
  1. Amal Khalouaoui,
  2. Josephine Piarroux,
  3. Gaelle Sorin,
  4. Marjolaine Oger,
  5. Claire Nicaise,
  6. Barthélémy Tosello
  1. Neonatology, Public Assistance Hospitals of Marseille, Marseille, France
  1. Correspondence to Dr Barthélémy Tosello, Neonatology, Public Assistance Hospitals of Marseille, Marseille 13354, France; barthelemy.tosello{at}

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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 …

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  • Contributors AK, JP, GS and BT participated in writing of the manuscript. CN and MO participated in the data interpretation and in writing the manuscript. All the coauthors approved the final manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; internally peer reviewed.