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

Author(s): 
Mosallanejad A1
Sayarifard F2
Hosseinverdi S3
Abbasi F2
Shabni Mirzaee H4
Rezaei N5
Abstract: 

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.

URL: 
https://www.ncbi.nlm.nih.gov/pubmed/?term=Proptosis%2C+Micrognathia%2C+Low+Set+Ear+and+Chest+Deformity+in+a+Patient+with+Extra+Marker+Chromosome+22

Contact Us

Research Center for Immunodeficiencies

Address: Pediatrics Center of Excellence, Children’s Medical Center Hospital, 62 Qarib St., Keshavarz Blvd., Tehran 14194, Iran

Research Center For immunodeficiency

Research Center For immunodeficiency