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dc.contributor.authorDonma, M. Metin
dc.contributor.authorMintas, Nuriye Ece
dc.contributor.authorOzdilek, Burcu
dc.contributor.authorKarasu, Erkut
dc.contributor.authorPaketci, Cem
dc.contributor.authorNALBANTOĞLU, BURÇİN
dc.contributor.authorNisli, Kemal
dc.date.accessioned2021-03-04T10:19:43Z
dc.date.available2021-03-04T10:19:43Z
dc.date.issued2013
dc.identifier.citationNALBANTOĞLU B., Donma M. M. , Nisli K., Paketci C., Karasu E., Ozdilek B., Mintas N. E. , "Jacobsen syndrome without thrombocytopenia: a case report and review of the literature", TURKISH JOURNAL OF PEDIATRICS, cilt.55, sa.2, ss.203-206, 2013
dc.identifier.issn0041-4301
dc.identifier.othervv_1032021
dc.identifier.otherav_6c97d26e-9322-4490-bf03-441fbcf67083
dc.identifier.urihttp://hdl.handle.net/20.500.12627/75075
dc.description.abstractJacobsen 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 <3rd percentile for height and weight and showed some developmental delay. Magnetic resonance imaging (MRI) showed hyperintensive gliotic signal changes in periventricular cerebral white matter, and leukodystrophy was suspected. Chromosomal analysis of the patient showed terminal deletion of chromosome 11. The karyotype was designated 46, XX, del(11) (q24.1). A review of published reports shows that the severity of the observed clinical abnormalities in patients with JS is not clearly correlated with the extent of the deletion. Most of the patients with JS had short stature, and some of them had documented growth hormone deficiency, or central or primary hypothyroidism. In patients with the classical phenotype, the diagnosis is suspected on the basis of clinical findings:intellectual disability, facial dysmorphic features and thrombocytopenia. The diagnosis must be confirmed by cytogenetic analysis. For patients who survive the neonatal period and infancy, the life expectancy remains unknown. In this report, we describe a patient with the clinical features of JS without thrombocytopenia. To our knowledge, this is the first case reported from Turkey.
dc.language.isoeng
dc.subjectPEDİATRİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectÇocuk Sağlığı ve Hastalıkları
dc.titleJacobsen syndrome without thrombocytopenia: a case report and review of the literature
dc.typeMakale
dc.relation.journalTURKISH JOURNAL OF PEDIATRICS
dc.contributor.departmentTekirdağ Namık Kemal Üniversitesi , Tıp Fakültesi , Çocuk Sağlığı Ve Hastalıkları Anabilim Dalı
dc.identifier.volume55
dc.identifier.issue2
dc.identifier.startpage203
dc.identifier.endpage206
dc.contributor.firstauthorID208424


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