Search :     
2011-03-15-13 Answer to the case of the week #294 © Andreeva
Answer to the case of the week #294

May 26, 2011 - June 9, 2011.

Elena Andreeva, MD.

Moscow regions Research Institute of Obstetrics and Gynecology, Medical-Genetics Department, Moscow, Russia.

Case report

This is a case of a 35-year-old patient, G1P0, who was referred for ultrasound examination at 37 weeks of gestation.
Our ultrasound examination revealed the following findings:
  • Disproportionate dwarfism - short forearms and lower legs
  • Small chest
  • Congenital heart defect, common atrium
  • Postaxial polydactyly of the feet

Our diagnosis based on the above findings was Ellis-van Creveld syndrome. Patient delivered at term, baby boy measured 48 cm and his weight was 2800 grams. The postnatal findings confirmed our diagnosis of Ellis-van Creveld syndrome. In addition to the above findings, neonate had gingival hyperplasia and gothic palate. The neonate died 8 days after delivery due to a heart failure.

Images 1,2
: 37 weeks, Image 1 shows a markedly shortened tibia corresponding with 26 weeks of gestation. Image 2 shows a sagittal view of the chest and abdomen, note extremely small and narrow chest.


Images 3,4: Image 3 shows a narrow chest. Image 4 shows a cervical spine scoliosis.

Images 5,6: Images shows postaxial polydactyly of the feet.

Images 7,8: Image 7 shows a common atrium. Image 8 shows an aortic arch.


Video: Video showing the 4-chamber view of the heart, note common atrium.

Images 9,10: Images of the neonate after delivery. Note markedly narrowed chest.

Image 11: Postaxial polydactyly.

Image 12: X-ray showing short ribs and narrow thoracic cage.

Here you can see en example of an excellent answer send by Javier Cortejoso.
Back to case
Help Support :