Ellis-van Creveld syndrome

Case contributed by Dr Yasser Asiri

Presentation

Polydactyly, to rule out other anomalies.

Patient Data

Age: 18 years
Gender: Female
X-ray

Skeletal survey

  • Mild microcephaly.
  • Mild facial hypoplasia.
  • Evidence of prior cardiac surgery with median sternotomy wires and mild increased cardiac shadow.  Normal lungs vascularity.
  • Mildly thickened bilateral clavicles. 
  • Shortened upper and lower extremities. 
  • Medial spurs at bilateral proximal tibiaal diametaphysis seen.
  • Left tibia varus deformity seen.
  • Bilateral six metacarpal digits seen.  The sixth digits are seen at the medial aspects of the hands consistent with bilateral post-axial polydactyly. 
  • Bilateral capito-hamate coalition. 

The overall dysmorphic skeletal features and the history of congenital of heart disease would highly suggest Ellis-van Creveld syndrome.

Case Discussion

Ellis-van creveld syndrome is also called chondroectodermal dysplasia. The patients usually present clinically by congenital heart disease, post axial polydactyly and abnormal hair or nails in addition to the radiographic findings like mesomelic dwarfism and polydactyly. 

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Case information

rID: 64933
Published: 16th Dec 2018
Last edited: 18th Dec 2018
Inclusion in quiz mode: Excluded

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