Severe developmental delay and multiple strawberry naevi: a new syndrome?

Area of Science:

• Pediatric Medicine
• Clinical Genetics
• Dermatology

Background:

• Developmental delay is a significant concern in pediatric care.
• Congenital vascular malformations, such as strawberry and capillary naevi, require careful evaluation.
• Genetic and syndromic associations with dysmorphic features are actively researched.

Observation:

• An 18-month-old female patient exhibited significant dysmorphic facial features.
• The patient presented with severe global developmental delay.
• Multiple strawberry naevi and capillary naevi were noted on the skin.

Findings:

• The described case highlights a unique constellation of clinical findings in an infant.
• No prior medical literature reports a similar association of dysmorphic features, developmental delay, and extensive naevi.
• This suggests a potentially novel genetic or syndromic presentation.

Implications:

• Further research is warranted to identify the underlying etiology of this condition.
• This case may contribute to a broader understanding of rare genetic disorders.
• Early identification and management strategies for similar cases may be developed.