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Eponym

Johanson-Blizzard syndrome

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Abstract

Johanson-Blizzard syndrome is a very rare autosomal recessive disorder caused by mutations in the Ubiquitin-Protein Ligase E3 Component N-Recognin 1 (UBR1) gene. The syndrome is characterized by exocrine pancreatic insufficiency and a wide range of additional clinical features, including aplasia or hypoplasia of the alae nasi, oligodontia, sensorineural hearing loss, hypothyroidism, scalp defects, mental retardation, and developmental delay. Several other abnormalities in different organs, particularly anorectal, urogenital, and cardiac anomalies have been reported since the first description of this syndrome four decades ago. UBR1 gene defects are underlying the disease. Only symptomatic treatment is available. Exocrine pancreas insufficiency plus abnormal alae nasi is pathognomonic for Johanson-Blizzard syndrome.

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Authors and Affiliations

  1. Research Group for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran

    Nima Rezaei

  2. Molecular Immunology Research Center, and Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

    Nima Rezaei

  3. Department of Infection and Immunity, School of Medicine and Biomedical Sciences, The University of Sheffield, Sheffield, UK

    Nima Rezaei

  4. Division of Pediatric Gastroenterology, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran

    Mozhgan Sabbaghian

  5. Department of Digestive Disease, Nanjing Children’s Hospital, Nanjing Medical University, Nanjing, 210008, China

    Zhifeng Liu

  6. Institute of Human Genetics, University Hospital of Magdeburg, Magdeburg, Germany

    Martin Zenker

Authors
  1. Nima Rezaei
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  2. Mozhgan Sabbaghian
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  3. Zhifeng Liu
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  4. Martin Zenker
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Correspondence to Nima Rezaei or Martin Zenker.

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Rezaei, N., Sabbaghian, M., Liu, Z. et al. Eponym. Eur J Pediatr 170, 179–183 (2011). https://doi.org/10.1007/s00431-010-1240-5

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  • DOI: https://doi.org/10.1007/s00431-010-1240-5

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