Journal of Genetics and Genomes

Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, India

Publications

• Case Report   
  A Rare Case of Beckwith Wiedemann Syndrome
  Author(s): Moomin Hussain Bhat*, Shivani Sidana and Shariq Rashid Masoodi
  
  Beckwith Wiedemann syndrome is rare congenital overgrowth syndrome. This syndrome usually presents in neonates with macroglossia, large birth weight, omphalocele, visceromegaly and hypoglycemia. However, there is little information available regarding the natural history in adults with BWS. Here we present a case of Beckwith-Wiedemann syndrome with its major manifestations but without hypoglycemia that was misdiagnosed in infancy with mucopolysaccharidosis and presented to us at 14 years of age with tall stature... Read More»
  DOI: 10.37421/2684-4567.2024.8.107

  Abstract HTML PDF