Academic Journal
48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome
| العنوان: | 48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome |
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| المؤلفون: | D. Milani, F. Bonarrigo, S. Esposito, S. Avignone, F. Triulzi |
| المساهمون: | D. Milani, F. Bonarrigo, S. Avignone, F. Triulzi, S. Esposito |
| بيانات النشر: | BioMed Central Ltd. |
| سنة النشر: | 2015 |
| المجموعة: | The University of Milan: Archivio Istituzionale della Ricerca (AIR) |
| مصطلحات موضوعية: | Cranio-cervical junction, Klinefelter syndrome, Fraccaro syndrome, Sex chromosomal aneuploidie, X chromosome, Settore MED/38 - Pediatria Generale e Specialistica |
| الوصف: | Background: Sex chromosomal aneuploidies in males are rare diseases with an overwhelming involvement of endocrinological and auxological issues; less frequently, other anomalies are observed. Neuroradiological issues are often not taken into account in single patients, and neuroradiological examinations are rarely performed. Case presentation: Here, we report a boy with 48,XXXY/49,XXXXY mosaicism, phenotypically characterized by hypotonia, intellectual disability, ventricular septal defect, micropenis, and with mild hypertelorism, inverted nipples, a congenital hip dysplasia, and some neuroradiological features so far not described. The Magnetic Resonance Imaging showed white matter abnormalities and enlargement of lateral ventricles with never described dysmorphisms of cranio-cervical junction and posterior fossa. A cranio-cervical Computerized Tomography confirmed a dysmorphic aspect of the posterior fossa and occipital condyles, slight morphological asymmetry of C1 and slight lateralization to the right of the odontoid's apex. Conclusions: Considering the possible relevant clinical impact of these findings, the neuroradiological assessment seems potentially useful to the diagnostic approach of these patients. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/26168786; info:eu-repo/semantics/altIdentifier/wos/WOS:000357773300001; volume:41; firstpage:1; lastpage:4; numberofpages:4; journal:THE ITALIAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/2434/295393; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84937209888 |
| DOI: | 10.1186/s13052-015-0156-0 |
| الاتاحة: | http://hdl.handle.net/2434/295393 https://doi.org/10.1186/s13052-015-0156-0 |
| Rights: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.2839C29E |
| قاعدة البيانات: | BASE |
| DOI: | 10.1186/s13052-015-0156-0 |
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