[Beckwith-Wiedemann over-growth syndrom]

Area of Science:

• Genetics
• Pediatrics
• Endocrinology

Background:

• Congenital hemihyperplasia, umbilical hernia, and neonatal hypoglycemia can indicate complex genetic disorders.
• Beckwith-Wiedemann syndrome (BWS) is a growth disorder with significant genetic heterogeneity.
• Paternal uniparental disomy of chromosome 11p15.5 is a known genetic cause of BWS.

Purpose of the Study:

• To report a case of BWS in a boy with specific congenital anomalies.
• To investigate the genetic etiology of the observed phenotype.
• To underscore the importance of genotype-phenotype correlation in managing BWS.

Main Methods:

• Clinical case reporting.
• Genetic analysis to determine the cause of BWS (paternal uniparental disomy of chromosome 11p15.5).
• Phenotypic assessment including physical examination and developmental evaluation.

Main Results:

• The patient presented with congenital hemihyperplasia, umbilical hernia, and temporary neonatal hypoglycemia.
• Genetic testing confirmed BWS due to paternal uniparental disomy of chromosome 11p15.5.
• Additional features included scoliosis, nephromegaly, focal partial epilepsy, and delayed psychomotor development, consistent with the genetic diagnosis.

Conclusions:

• This case illustrates a specific genetic cause of BWS and its associated clinical manifestations.
• Accurate genetic diagnosis is essential for understanding the specific complications and risks in BWS patients.
• Early identification of genetic variants allows for proactive management and tailored patient care.