Jacobsen syndrome without thrombocytopenia: a case report and review of the literature
Jacobsen syndrome (JS), a rare disorder with multiple dysmorphic features, is caused by the terminal deletion of chromosome 11q. Typical features include mild to moderate psychomotor retardation, trigonocephaly, facial dysmorphism, cardiac defects, and thrombocytopenia, though none of these f...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2013-04-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/1481 |
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| author | Burçin Nalbantoğlu M Metin Donma Kemal Nişli Cem Paketçi Erkut Karasu Burcu Ozdilek Nuriye Ece Mintaş |
| author_facet | Burçin Nalbantoğlu M Metin Donma Kemal Nişli Cem Paketçi Erkut Karasu Burcu Ozdilek Nuriye Ece Mintaş |
| author_sort | Burçin Nalbantoğlu |
| collection | DOAJ |
| description |
Jacobsen syndrome (JS), a rare disorder with multiple dysmorphic features, is caused by the terminal deletion of chromosome 11q. Typical features include mild to moderate psychomotor retardation, trigonocephaly, facial dysmorphism, cardiac defects, and thrombocytopenia, though none of these features are invariably present. The estimated occurrence of JS is about 1/100,000 births. The female/male ratio is 2:1. The patient admitted to our clinic at 3.5 years of age with a cardiac murmur and facial anomalies. Facial anomalies included trigonocephaly with bulging forehead, hypertelorism, telecanthus, downward slanting palpebral fissures, and a carp-shaped mouth. The patient also had strabismus. An echocardiogram demonstrated perimembranous aneurysmatic ventricular septal defect and a secundum atrial defect. The patient was |
| format | Article |
| id | doaj-art-040010d4fae345799ae77c1157ea6bb2 |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2013-04-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-040010d4fae345799ae77c1157ea6bb22025-08-20T02:01:47ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212013-04-01552Jacobsen syndrome without thrombocytopenia: a case report and review of the literatureBurçin Nalbantoğlu0M Metin DonmaKemal NişliCem PaketçiErkut KarasuBurcu OzdilekNuriye Ece MintaşDepartment of Pediatrics, Namık Kemal University Faculty of Medicine, Tekirdağ, Turkey. bnalbantoglu@nku.edu.tr. Jacobsen syndrome (JS), a rare disorder with multiple dysmorphic features, is caused by the terminal deletion of chromosome 11q. Typical features include mild to moderate psychomotor retardation, trigonocephaly, facial dysmorphism, cardiac defects, and thrombocytopenia, though none of these features are invariably present. The estimated occurrence of JS is about 1/100,000 births. The female/male ratio is 2:1. The patient admitted to our clinic at 3.5 years of age with a cardiac murmur and facial anomalies. Facial anomalies included trigonocephaly with bulging forehead, hypertelorism, telecanthus, downward slanting palpebral fissures, and a carp-shaped mouth. The patient also had strabismus. An echocardiogram demonstrated perimembranous aneurysmatic ventricular septal defect and a secundum atrial defect. The patient was https://turkjpediatr.org/article/view/1481 |
| spellingShingle | Burçin Nalbantoğlu M Metin Donma Kemal Nişli Cem Paketçi Erkut Karasu Burcu Ozdilek Nuriye Ece Mintaş Jacobsen syndrome without thrombocytopenia: a case report and review of the literature The Turkish Journal of Pediatrics |
| title | Jacobsen syndrome without thrombocytopenia: a case report and review of the literature |
| title_full | Jacobsen syndrome without thrombocytopenia: a case report and review of the literature |
| title_fullStr | Jacobsen syndrome without thrombocytopenia: a case report and review of the literature |
| title_full_unstemmed | Jacobsen syndrome without thrombocytopenia: a case report and review of the literature |
| title_short | Jacobsen syndrome without thrombocytopenia: a case report and review of the literature |
| title_sort | jacobsen syndrome without thrombocytopenia a case report and review of the literature |
| url | https://turkjpediatr.org/article/view/1481 |
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