TürkiyeDiagnosis and screening
18 patients with Beckwith-Wiedemann in Ankara: international scoring found helpful for diagnosis
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
Children with Beckwith-Wiedemann syndrome were studied at Ankara Bilkent City Hospital. The study included 18 patients. The most common findings were an enlarged tongue and an opening in the abdominal wall at birth. Genetic testing found a change in 13 of 16 patients. A liver tumor was seen in one patient.
What does it mean for patients and families?
Regular follow-up for tumor risk is important in this syndrome. The scoring guides the doctor in diagnosis and follow-up. This is a small study.
Source
Scientific paper: Clinical and Molecular Evaluation of Beckwith-Wiedemann Syndrome with the BWSICS Score. Molecular Syndromology, 2025. DOI: 10.1159/000543374 · PubMed 41230207
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Beckwith-Wiedemann syndrome (BWS)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.