Tehran University of Medical Sciences Acta Medica Iranica 0044-6025 53 12 2015 10 21 782 784 EN Asieh Mosallanejad Imam Hossein Medical Center, Shahid Beheshti University of Medical Science, Tehran, Iran. Fatemeh Sayarifard Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran. Sima Hosseinverdi Molecular Immunology Research Center, Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Farzaneh Abbasi Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran. Hosein Shabni Mirzaee Department of Pediatric Endocrinology, Bahrami Hospital, Tehran University of Medical Sciences,Tehran, Iran. Nima Rezaei Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medicl Sciences, Tehran, Iran. AND Universal Scientific Education and Research Network (USERN), Tehran, Iran. 2015 10 21 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. https://acta.tums.ac.ir/index.php/acta/article/view/5027 https://acta.tums.ac.ir/index.php/acta/article/download/5027/4694