Bohring opitz syndrome: a rare case report

Authors

  • Umang Joshi Department of Pediatrics, R. K. Government District Hospital, Rajsamand, Rajasthan, India
  • Saransh Sabal Department of Pediatrics, R. K. Government District Hospital, Rajsamand, Rajasthan, India
  • Lalit Purohit Department of Pediatrics, R. K. Government District Hospital, Rajsamand, Rajasthan, India
  • Dinesh Mirdha Department of Pediatrics, R. K. Government District Hospital, Rajsamand, Rajasthan, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20232893

Keywords:

Bohring opitz syndrome, ASXL1, BOS posture, Glabellar nevus sim

Abstract

Bohring- Opitz syndrome (BOS) first described by Bohring et al in 1999, is a rare congenital disorder of unknown etiology.  He described 4 cases with characteristic features. This syndrome is characterized by distinctive facial features and posture, growth failure, variable intellectual disability, and variable anomalies. The diagnosis of BOS is established in a proband with suggestive clinical features and/or Identification of constitutional heterozygous pathogenic variant in ASXL1 by molecular genetic testing. We presented a case which phenotypically and genetically matches the findings of this syndrome.

References

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Published

2023-09-27

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Section

Case Reports