Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child

Area of Science:

• Genetics and rare diseases
• Pediatric medicine
• Connective tissue disorders

Background:

• Shprintzen-Goldberg syndrome (S-G) is a rare autosomal recessive disorder.
• Characterized by craniosynostosis, craniofacial dysmorphism, skeletal, cardiovascular, and neurological abnormalities.
• Limited data exists on S-G prevalence in the Indian population.

Observation:

• A five-year-old Indian girl presented with reducible umbilical hernia, mental retardation, and delayed developmental milestones.
• Clinical examination and investigations suggested a possible diagnosis of Shprintzen-Goldberg syndrome.
• The case was compared with classical S-G features described in existing literature.

Findings:

• The index case exhibited several features consistent with Shprintzen-Goldberg syndrome.
• This presentation underscores the variability and potential underdiagnosis of S-G.
• The case highlights the importance of comprehensive evaluation in suspected rare genetic disorders.

Implications:

• This case report contributes to the limited literature on Shprintzen-Goldberg syndrome in India.
• Increased awareness can facilitate earlier diagnosis and management of S-G.
• Further research is needed to understand the genetic and clinical spectrum of S-G in diverse populations.