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Proptosis,micrognathia,low set ear and chest deformity in a patient with extra marker chromosome 22
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نویسنده
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mosallanejad a. ,sayarifard f. ,hosseinverdi s. ,abbasi f. ,mirzaee h.s. ,rezaei n.
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منبع
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acta medica iranica - 2015 - دوره : 53 - شماره : 12 - صفحه:782 -784
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چکیده
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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. © 2015 tehran university of medical sciences. all rights reserved.
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کلیدواژه
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Cat eye syndrome; Congenital heart defects; Ocular coloboma; Vaginal neuroma
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آدرس
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shahid beheshti university of medical sciences, ایران, growth and development research center,tehran university of medical sciences, ایران, molecular immunology research center,department of immunology,school of medicine,tehran university of medical sciences, ایران, growth and development research center,tehran university of medical sciences, ایران, department of pediatric endocrinology,bahrami hospital,tehran university of medical sciences, ایران, research center for immunodeficiencies,children's medical center,tehran university of medicl sciences,tehran,iran,universal scientific education and research network (usern), ایران
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Authors
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