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 N^{5, 6}
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.