Baller-Gerold syndrome associated with dextrocardia

Area of Science:

• Medical Genetics
• Pediatrics
• Cardiology

Background:

• Baller-Gerold Syndrome (BGS) is a rare autosomal recessive disorder.
• BGS is characterized by craniosynostosis and limb malformations, including absent radii and thumbs.
• The syndrome's typical presentation does not include cardiac anomalies.

Purpose of the Study:

• To report a novel case of Baller-Gerold Syndrome.
• To describe the association of dextrocardia with Baller-Gerold Syndrome.
• To highlight the importance of comprehensive evaluation in rare genetic disorders.

Main Methods:

• Clinical case presentation of a 4-year-old boy.
• Diagnostic evaluation including physical examination and echocardiography.
• Review of existing literature on Baller-Gerold Syndrome.

Main Results:

• The patient presented with craniosynostosis and bilateral absent thumbs and radii, consistent with Baller-Gerold Syndrome.
• Echocardiography revealed dextrocardia, with the heart localized to the right side.
• This represents the first reported instance of dextrocardia in a patient with Baller-Gerold Syndrome.

Conclusions:

• Baller-Gerold Syndrome can present with extraskeletal manifestations, such as dextrocardia.
• This case expands the known clinical spectrum of Baller-Gerold Syndrome.
• Further research is warranted to understand the genetic and developmental links between BGS and cardiac anomalies.