# Unusual Presentation of Beckwith-Wiedemann Syndrome in an Extremely Low Birth Weight Infant

## TL;DR

This paper describes a rare case of Beckwith-Wiedemann Syndrome in a very low birth weight infant, highlighting the challenges in early diagnosis.

## Contribution

The paper presents an unusual clinical case that expands understanding of BWS presentation in low birth weight infants.

## Key findings

- The infant was born with extremely low birth weight, delaying the diagnosis of BWS.
- Clinical features like hemihypertrophy were observed later, leading to a confirmed diagnosis.
- A clinical scoring system proved sufficient for timely and accurate BWS diagnosis.

## Abstract

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder that affects fetal growth in which those afflicted present with features pertaining to that, such as macrosomia, macroglossia, hemihypertrophy, and abdominal wall defects. This case reports the presentation of an infant diagnosed with BWS who was born with an extremely low birth weight of 980 grams, in contrast to the typical presentation of overgrowth and macrosomia. As a result, reaching a diagnosis of BWS was delayed until the patient reached eight months of age, when other clinical features of BWS, such as hemihypertrophy, became apparent on follow-up visits. Although genetic testing can be used to diagnose this condition, a clinical scoring system consisting of a patient’s clinical features is sufficient, allowing for a timely and precise diagnosis, which is of great significance to allow for early screening and detection of the associated embryonal tumors with such a syndrome.