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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.


Asieh Mosallanejad, Fatemeh Sayarifard, Sima Hosseinverdi, Farzaneh Abbasi, Hosein Shabni Mirzaee, Nima Rezaei. Proptosis, Micrognathia, Low Set Ear and Chest Deformity in a Patient with Extra Marker Chromosome 22. Acta medica Iranica. 2015 Dec;53(12):782-4

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PMID: 26749236

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