Wiedemann Syndrome
Also written as BWS.
Patients with this syndrome typically carry a point mutation within the WT1 gene.\nThe Beckwith-Wiedemann syndrome is characterized by hemihypertrophy, macroglossia, and visceromegaly, with a risk of developing Wilms tumor of 3-5%.
What our notes say
- Patients with this syndrome typically carry a point mutation within the WT1 gene.\nThe Beckwith-Wiedemann syndrome is characterized by hemihypertrophy, macroglossia, and visceromegaly, with a risk of developing Wilms tumor of 3-5%. (Paediatric solid tumors)
- other conditions which were previously missed are picked Beckwith-Wiedemann Syndrome (Devendra K. Gupta, Krishna M. Goel - Hutchison’s Paediatrics. chdhe-Jaypee Broth)
- The commonest primary liver tumour of young children (usually under 3 years): raised AFP, linked to Beckwith-Wiedemann syndrome and familial adenomatous polyposis. (Liver tumours: benign, primary malignant and metastatic)
- Syndromes:\n- WAGR syndrome: Wilms', aniridia, genito-urinary anomalies, mental\nretardation.\n- Denys-Drash syndrome:Wilms'tumor, renal disease, pseudo hermaphroditism.\n-Beckwith Wiedemann syndrome. (BABY NELSON PEADS)
- Beckwith-Wiedemann syndrome was described independently\nCase Study in the 1960s by Dr Wiedemann and Dr Beckwith. (Devendra K. Gupta, Krishna M. Goel - Hutchison’s Paediatrics. chdhe-Jaypee Broth)
Study material on Wiedemann Syndrome
- Devendra K. Gupta, Krishna M. Goel - Hutchison’s Paediatrics. chdhe-Jaypee Brothers (2012)
- Kaplan Pediatrics pdf-notes 201506051322 - flattened (2)