Open AccessA Case Report of Beckwith-Weidemann Syndrome: An Overgrowth Anomaly
Author(s) -
Monika Jindal,
Santosh Minhas,
Monika Sharma,
Jaspreet Singh
Publication year - 2021
Publication title -
journal of clinical and diagnostic research
Language(s) - English
Resource type - Journals
eISSN - 2249-782X
pISSN - 0973-709X
DOI - 10.7860/jcdr/2021/46397.14438
Subject(s) - omphalocele , medicine , macroglossia , beckwith–wiedemann syndrome , prenatal diagnosis , pediatrics , obstetrics , abdominal wall defect , pregnancy , abdominal wall , surgery , fetus , pathology , tongue , gene expression , genetics , biochemistry , chemistry , gene , dna methylation , biology
Beckwith-Wiedemann Syndrome (BWS) is an overgrowth anomaly of congenital origin that has low prevalence. However, among the congenital anomalies of overgrowth, it has high prevalence. Typical features are macroglossia, macrosomia, omphalocele and anterior abdominal wall defects. Though Genetic, but it’s mechanism of occurrence is not clear. Many researchers have found correlation between methodology of Assisted Reproductive Techniques and BWS. Future research for the improvement of the prenatal diagnostic techniques would help the multidisciplinary team to treat these congenital diseases. In the present case, the diagnosis of BWS was made by ultrasound conducted in Radiology Department after filling Preconception and Prenatal Diagnostic Techniques (PCPNDT) form in the institute at gestation of 29+6 weeks and after two days of diagnosis, unfortunately patient reported to our hospital emergency with intrauterine foetal demise.