UNUSUAL PRESENTATION OF BECKWITH-WIEDEMANN SYNDROME IN AN INFANT

Authors

  • Rexhep Memedi University Clinic for Pediatric Diseases, Neonatology Department, Faculty of Medicine, Ss. Cyril and Methodius University, Skopje, Republic of North Macedonia
  • Jana Jovanovska Clinical Hospital Acibadem Sistina, Neonatology Department, Skopje, Republic of North Macedonia
  • Mevlane Islami Limani University Clinic for Pediatric Diseases, Neonatology Department, Faculty of Medicine, Ss. Cyril and Methodius University, Skopje, Republic of North Macedonia
  • Nikolina Zdraveska University Clinic for Pediatric Diseases, Neonatology Department, Faculty of Medicine, Ss. Cyril and Methodius University, Skopje, Republic of North Macedonia
  • Milena Kacarska University Clinic for Pediatric Diseases, Neonatology Department, Faculty of Medicine, Ss. Cyril and Methodius University, Skopje, Republic of North Macedonia
  • Besim Vejseli University Clinic for Pediatric Diseases, Neonatology Department, Faculty of Medicine, Ss. Cyril and Methodius University, Skopje, Republic of North Macedonia

Keywords:

Beckwith -Wiedemann syndrome, overgrowth syndrome, macroglossia, facial dysmorphia, hypoglycaemia in a newborn, embryonal tumors, visceromegaly, polyhydramnios.

Abstract

Beckwith-Wiedemann syndrome affects 1 in approximately 14000 newborns.

Here we present an atypical case of an infant with Beckwith-Wiedemann syndrome with mild facial dysmorphia, macroglossia, hypotonia, respiratory and feeding difficulties, without lateralized overgrowth, without abdominal wall defects, no organomegaly, hypoglycemia or embryonal tumors.

References

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Published

2023-12-27

Issue

Vol. 3 No. 3 (2023): Acad Med J

Section

Case Reports