Siblings with Imperforate anus and aplastic nasal alae: Johanson-Blizzard syndrome

Authors

  • Ashwini Harohalli Nagarasaraiah Department of Paediatrics, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India http://orcid.org/0000-0002-5433-567X
  • Chinthan S. Gubbari Department of Paediatrics, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India
  • Varun Govindarajan Department of Paediatrics, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India http://orcid.org/0000-0002-3323-2030
  • Chikkanarasa Reddy Department of Paediatrics, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20212890

Keywords:

Johanson-Blizzard syndrome, Imperforate anus, Aplasia ala nasi, Aplasia cutis of scalp, Pancreatic insufficiency, Sen-sorineural hearing loss

Abstract

Johanson-Blizzard syndrome is a rare genetic entity reported in medical literature resulting from mutations in UBR1 gene, affecting pancreas, craniofacial and urogenital development, causing significant morbidity and mortality. We report a neonate presenting with anorectal malformation requiring surgical intervention at birth, with similar surgeries being performed in two elder siblings. Surviving sibling of the proband neonate also has similar dysmorphic features of absent ala nasi, aplasia cutis of scalp along with pancreatic insufficiency, profound sensorineural hearing loss, pheno-type corresponding to Johanson-Blizzard syndrome. Syndromic diagnosis helps in screening for associated potential issues, which can intervened at early stages.

Author Biographies

Ashwini Harohalli Nagarasaraiah, Department of Paediatrics, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Junior Resident, Department of Paediatrics

Chinthan S. Gubbari, Department of Paediatrics, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Neonatologist, Government HSIS Gosha Hospital, Bengaluru

Varun Govindarajan, Department of Paediatrics, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Junior Resident, Department of Paediatrics

Chikkanarasa Reddy, Department of Paediatrics, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Assistant Professor, Department of Paediatrics

References

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Published

2021-07-23

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Section

Case Reports