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

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

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 manifes...

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Main Authors: Asieh Mosallanejad, Fatemeh Sayarifard, Sima Hosseinverdi, Farzaneh Abbasi, Hosein Shabni Mirzaee, Nima Rezaei
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2015-10-01
Series:Acta Medica Iranica
Subjects:
Cat eye syndrome
Ocular coloboma
Congenital heart defects
Vaginal neuroma.
Online Access:https://acta.tums.ac.ir/index.php/acta/article/view/5027
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spelling doaj-2983c0cbc92d41a9ae6dfc97199d6e102020-11-25T03:22:17ZengTehran University of Medical SciencesActa Medica Iranica0044-60251735-96942015-10-0153124907Proptosis, Micrognathia, Low Set Ear and Chest Deformity in a Patient with Extra Marker Chromosome 22Asieh Mosallanejad0Fatemeh Sayarifard1Sima Hosseinverdi2Farzaneh Abbasi3Hosein Shabni Mirzaee4Nima Rezaei5Imam Hossein Medical Center, Shahid Beheshti University of Medical Science, Tehran, Iran.Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.Molecular Immunology Research Center, Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.Department of Pediatric Endocrinology, Bahrami Hospital, Tehran University of Medical Sciences,Tehran, Iran.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. 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/5027Cat eye syndromeOcular colobomaCongenital heart defectsVaginal neuroma.
collection DOAJ
language English
format Article
sources DOAJ
author Asieh Mosallanejad
Fatemeh Sayarifard
Sima Hosseinverdi
Farzaneh Abbasi
Hosein Shabni Mirzaee
Nima Rezaei
spellingShingle 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
Cat eye syndrome
Ocular coloboma
Congenital heart defects
Vaginal neuroma.
author_facet Asieh Mosallanejad
Fatemeh Sayarifard
Sima Hosseinverdi
Farzaneh Abbasi
Hosein Shabni Mirzaee
Nima Rezaei
author_sort Asieh Mosallanejad
title Proptosis, Micrognathia, Low Set Ear and Chest Deformity in a Patient with Extra Marker Chromosome 22
title_short Proptosis, Micrognathia, Low Set Ear and Chest Deformity in a Patient with Extra Marker Chromosome 22
title_full Proptosis, Micrognathia, Low Set Ear and Chest Deformity in a Patient with Extra Marker Chromosome 22
title_fullStr Proptosis, Micrognathia, Low Set Ear and Chest Deformity in a Patient with Extra Marker Chromosome 22
title_full_unstemmed Proptosis, Micrognathia, Low Set Ear and Chest Deformity in a Patient with Extra Marker Chromosome 22
title_sort proptosis, micrognathia, low set ear and chest deformity in a patient with extra marker chromosome 22
publisher Tehran University of Medical Sciences
series Acta Medica Iranica
issn 0044-6025
1735-9694
publishDate 2015-10-01
description 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.
topic Cat eye syndrome
Ocular coloboma
Congenital heart defects
Vaginal neuroma.
url https://acta.tums.ac.ir/index.php/acta/article/view/5027
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AT fatemehsayarifard proptosismicrognathialowsetearandchestdeformityinapatientwithextramarkerchromosome22
AT simahosseinverdi proptosismicrognathialowsetearandchestdeformityinapatientwithextramarkerchromosome22
AT farzanehabbasi proptosismicrognathialowsetearandchestdeformityinapatientwithextramarkerchromosome22
AT hoseinshabnimirzaee proptosismicrognathialowsetearandchestdeformityinapatientwithextramarkerchromosome22
AT nimarezaei proptosismicrognathialowsetearandchestdeformityinapatientwithextramarkerchromosome22
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