Ellis van Creveld syndrome with unusual association of essential infantile esotropia

Area of Science:

• Genetics
• Pediatrics
• Medical Case Reports

Background:

• Ellis-van Creveld syndrome is a rare autosomal recessive disorder.
• Characterized by short-limbed dwarfism, polydactyly, skeletal, oral, dental, and nail anomalies.
• Congenital cardiac defects occur in 50-60% of cases, contributing to high early mortality.

Observation:

• Presents a case of a six-month-old female infant diagnosed with Ellis-van Creveld syndrome.
• The infant also exhibited essential infantile esotropia, a condition rarely documented with this syndrome.
• This highlights a potentially underreported clinical manifestation.

Findings:

• Confirms the genetic basis of Ellis-van Creveld syndrome (EVC1/EVC2 gene mutations).
• Documents the co-occurrence of essential infantile esotropia in an infant with Ellis-van Creveld syndrome.
• Underscores the diverse and complex clinical spectrum of this rare genetic disorder.

Implications:

• Suggests the need for comprehensive ophthalmological evaluation in infants with Ellis-van Creveld syndrome.
• May prompt further research into the genetic or developmental links between Ellis-van Creveld syndrome and ocular conditions.
• Contributes to a better understanding of the multifaceted presentation of rare genetic disorders.