Ellis-van Creveld syndrome: a case report

Area of Science:

• Medical Genetics
• Skeletal Dysplasias
• Pediatric Endocrinology

Background:

• Ellis-van Creveld syndrome (EVC), or chondroectodermal dysplasia, is a rare autosomal recessive disorder.
• Characterized by short-limbed dwarfism, ectodermal abnormalities, and congenital heart defects.
• Genetic mutations in EVC and EVC2 genes are implicated.

Observation:

• An eight-year-old female presented with short stature, abnormal dentition, and fatigue.
• Family history revealed first-degree relatives, suggesting autosomal recessive inheritance.
• Radiological imaging showed postaxial polydactyly, short stature, genu valgum, and mild cardiomegaly.

Findings:

• The patient's clinical and radiological features were consistent with a diagnosis of Ellis-van Creveld syndrome.
• Key diagnostic indicators included disproportionate short stature, limb abnormalities, and cardiac involvement.
• The presence of consanguinity in parents further supported the genetic basis of the condition.

Implications:

• Early and accurate diagnosis of EVC is crucial for timely intervention.
• Comprehensive radiological assessment is essential for identifying all affected systems.
• A multidisciplinary approach involving genetics, cardiology, and orthopedic specialists ensures optimal patient management and improved outcomes.