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2006-04-27-09 Answer to the case of the week 175 © Gourand

Answer to the case of the week #175

August 31-September 14, 2006

Luc Gourand, MD, Veronique Mirlesse, MD

Institut de Puericulture et de Perinatalogie, Paris

This is a 28-year-old-woman, G4P3, with three previous healthy boys. The parents were consanguineous. An ultrasound examination was performed at 31 weeks and the findings were:

  • Rhizomelic dwarfism: all long bones below the 3rd percentile
  • Short ribs
  • Narrow chest
  • Macrocrania
  • Hands: bilateral post-axial polydactylia
  • Heart anomalies: discrepancy between a large ductus arteriosus and a small aorta; disproportion in the diameter of the cardiac chamber (left ventricle smaller than the right ventricle)
  • Polyhydramnios
  • Normal kidneys

An amniocentesis was proposed. The karyotype was normal (46, XX). The testing for achondroplasia was negative.

The diagnosis of Ellis van Creveld syndrome was proposed prenatally and confirmed after birth.

The baby died due to a refractory hypoxemia on day 2.


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