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Proptosis, Micrognathia, Low Set Ear and Chest Deformity in a Patient With Extra Marker Chromosome 22 Pubmed



Mosallanejad A1 ; Sayarifard F2 ; Hosseinverdi S3 ; Abbasi F2 ; Mirzaee HS4 ; Rezaei N5, 6
Authors
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Authors Affiliations
  1. 1. Imam Hossein Medical Center, Shahid Beheshti University of Medical Science, Tehran, Iran
  2. 2. Growth and development research center, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Molecular Immunology Research Center, Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Department of Pediatric Endocrinology, Bahrami Hospital, Tehran University of Medical Sciences, Tehran, Iran
  5. 5. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medicl Sciences, Tehran, Iran
  6. 6. Universal Scientific Education and Research Network (USERN), Tehran, Iran

Source: Acta Medica Iranica Published:2015


Abstract

There is a number of syndromes, associated with proptosis, micrognathia, low-set ear and chest deformity. Herein, we report a 9-year-old female with such phenotype who was presented with a vaginal neuroma. The result of karyotype showed 47XX, with extra marker chromosome 22. Although such a manifestation had not been reported in the literature, it should be considered as a very rare manifestation of the disease. © 2015 Tehran University of Medical Sciences. All rights reserved.