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

Mosallanejad A1
Sayarifard F2
Hosseinverdi S3
Abbasi F2
Shabni Mirzaee H4
Rezaei N5

There is a number of syndromes, associated with proptosismicrognathialow-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.


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