Neonatal Williams Syndrome Presenting as an Isolated Supravalvular Pulmonary Stenosis
| العنوان: | Neonatal Williams Syndrome Presenting as an Isolated Supravalvular Pulmonary Stenosis |
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| المؤلفون: | Giulia d'Amati, Cira Di Gioia, Pietro Gallo, Eleonora Parroni, Costantino Ciallella, Anna Maria Nardone |
| المصدر: | Scopus-Elsevier |
| بيانات النشر: | Archives of Pathology and Laboratory Medicine, 2003. |
| سنة النشر: | 2003 |
| مصطلحات موضوعية: | Williams Syndrome, Mild Dysplasia, medicine.medical_specialty, Autopsy, Pathology and Forensic Medicine, Diagnosis, Differential, Fatal Outcome, Internal medicine, Humans, Medicine, In Situ Hybridization, Fluorescence, Postmortem Diagnosis, business.industry, Infant, Newborn, Infant, General Medicine, medicine.disease, Aortic Stenosis, Supravalvular, Pulmonary Valve Stenosis, Medical Laboratory Technology, Stenosis, medicine.anatomical_structure, Great arteries, Pulmonary valve, Cardiology, Female, Williams syndrome, Chromosome Deletion, business, Supravalvular aortic stenosis, Chromosomes, Human, Pair 7 |
| الوصف: | An infant with normal facies and none of the extracardiac anomalies usually associated with Williams syndrome presented at birth with an echocardiographic pattern of supravalvular pulmonary stenosis and displastic pulmonary valve. A clinical reappraisal was planned at 3 months of age, but the girl died suddenly at home at 2 months of age. At autopsy, both ventricles were hypertrophic, and the valves showed mild dysplasia. The walls of the great arteries were thick, with a “washed leather” consistency, but there was no gross evidence of discrete stenosis. The histologic mosaic appearance of the media of the great arteries, due to elastosis and extreme disarray of the elastic lamellae, prompted a postmortem diagnosis of supravalvar aortic stenosis and suggested a diagnosis of Williams syndrome, which was subsequently confirmed by fluorescence in situ hybridization. Pediatricians and pathologists should be alerted that Williams syndrome in the newborn may present as an isolated supravalvular pulmonary stenosis, whereas supravalvular aortic stenosis becomes clinically significant only a few months later. |
| تدمد: | 1543-2165 0003-9985 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9ccd95449806a4d39ac0114a23bbe46Test https://doi.org/10.5858/2003-127-e367-nwspaaTest |
| رقم الانضمام: | edsair.doi.dedup.....e9ccd95449806a4d39ac0114a23bbe46 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15432165 00039985 |
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