Williams-Beuren Syndrome: About A Case
Journal Title: Scholars Journal of Medical Case Reports - Year 2017, Vol 5, Issue 12
Abstract
Abstract:Williams-Beuren syndrome is a rare genetic disease with an incidence of 1 / 200000, characterized by evocative facial dysmorphism, cardiac malformations, psycho-motor retardation, specific cognitive and behavioral profile and impairment endocrine. Its treatment is symptomatic so that its management is multidisciplinary. We report a case of Williams-Beuren syndrome revealed by stunting. Keywords:Williams-Beuren syndrome, growth retardation, microdeletion of chromosome region q11.23.
Authors and Affiliations
Sara Askaoui, Guizlane El Mghari, Nawal El Ansari
Keywords
Related Articles
- EP ID EP379631
- DOI -
- Views 89
- Downloads 0
Persistent patent foramen ovale in elderly cadaver- ACase Report
Foramen ovale plays an important role in foetal circulation. Knowledge of persistent patent foramen ovale is very important for its association with various congenital & other valvular heart diseases. Patent foramen oval...
A Double Aortic Arch Presenting with Respiratory Distress in a Newborn Infant
A vascular ring is defined as an anomaly of the great arteries (aortic arch and its branches) that compresses to the trachea or esophagus. Double aortic arch is the most common vascular ring. It is very rare and typicall...
Acute Appendicitis Masquerading as Intra-abdominal Testicular Torsion: A Case Report and Review of Literature
Cryptoorchidism is a well known predisposing factor for testicular malignancy. Due to the habit of missing the examination of external genitalia, torsed intraabdominal testis is very rarely considered in the differential...
Solitary Osteochondroma of the C2/3 intravertebral disc as a Cause of Neurolopathy in a Child
Osteochondroma is a common benign tumor but rarely affects the spine and causes neurological symptom. Neurolopathy caused by tumor compression in a child is unusual. We report a 7-year-old girl who complained of neck a...
Angiolymphoid Hyperplasia with Eosinophilia
Angiolymphoid hyperplasia with eosinophilia (ALHE) is an uncommon idiopathic condition that manifests in adults as isolated or grouped papules, plaques, or nodules in the skin of the head and neck. It manifests with lesi...