Article
[Beckwith-Wiedemann Syndrome (BWS) Current Status of Diagnosis and Clinical Management: Summary of the First International Consensus Statement].
Klinische Padiatrie - 1 Apr 2018
Elbracht Miriam, Prawitt Dirk, Nemetschek Rebekka, Kratz Christian, Eggermann Thomas
Abstract excerpt
Beckwith-Wiedemann syndrome (BWS) belongs to the group of imprinting disorders and is characterized by variable clinical features, including overgrowth, macroglossia, abdominal wall defect, neonatal hypoglycemia, body asymmetry and an increased risk for embryonal tumors. In the majority of cases, molecular alterations of the Imprinting Center (IC) regions in the chromosomal region 11p15.5 can be detected, and a...
Topics
- Beckwith-Wiedemann Syndrome
- Consensus
- Consensus Development Conferences as Topic
- Genomic Imprinting
- Humans
- Phenotype
- Practice Guidelines as Topic