title: Proptosis, Micrognathia, Low Set Ear and Chest Deformity in a Patient with Extra Marker Chromosome 22.
abstract: 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.
authors.affiliation: Imam Hossein Medical Center, Shahid Beheshti University of Medical Science, Tehran, Iran.
authors.forename: Asieh
authors.initials: A
authors.lastname: Mosallanejad
authors.affiliation: Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Sayarifard
authors.affiliation: Molecular Immunology Research Center, Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Sima
authors.initials: S
authors.lastname: Hosseinverdi
authors.affiliation: Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Farzaneh
authors.initials: F
authors.lastname: Abbasi
authors.affiliation: Department of Pediatric Endocrinology, Bahrami Hospital, Tehran University of Medical Sciences,Tehran, Iran.
authors.forename: Hosein
authors.initials: H
authors.lastname: Shabni Mirzaee
authors.affiliation: 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.
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D002648:Child; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003103:Coloboma / Q000175:diagnosis / Q000235:genetics; D004423:Ear / Q000002:abnormalities; D005094:Exophthalmos / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007621:Karyotyping; D008844:Micrognathism / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D013577:Syndrome
keywords: Cat eye syndrome; Congenital heart defects; Ocular coloboma; Vaginal neuroma.