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Case No. 04 - Answer

Answer:

Chondroectodermal dyaplasia ( Ellis-van Crevald syndrome)

  • Ciliopathy caused by mutations in the EVC 1 and EVC2  genes

  • Disproportionate short stature, short limbs

  • Ectodermal dysplasia: hypoplastic nails, sparse hair and teeth

  • Neonatal teeth and multiple oral frenuale can be associated.

  • Post axial polydactyly and congenital heart diaseases are common associations

 

Diagnostic clues

  • Long narrow thorax with short ribs

  • Outward bowing of humeri ( arrows in A)

  • ‘trident pelvis’ ( arrow in B)

  • Lateral acetabular spur ( block arrow in B)

  • Presence of VSD

  • Post axial polydactyly ( C )

  • Hypoplastic distal phalanges ( C )

Correct Answer Submitted by:

 

  1. Richa Yadav

  2. Akhil Baby

  3. Apurva Surana

  4. Soumya Ranjan Malla

  5. Neha Dohare

  6. Shameena Farook

  7. R Praveen Kesav

  8. Madhuri Kumari

  9. Narasimman Murugan

  10. Shivani Gupta

  11. Mufeed AK

  12. Pradeep K

  13. Abirami Mahadevan