Trisomy 18

S. Manohar, MD.

India.

Case reportThis is a case of trisomy 18 with following findings:

  • Strawberry shaped skull
  • Dilated esophagus, upper neck pouch sign suggestive of esophageal atresia
  • Symmetric growth restriction
  • Overlapping fingers, clenched fists
  • Deviated heart axis
Images 1,2: Image 1 shows a strawberry-shaped skull, both BPD and head perimeter measure less than 3rd percentile. Image 2 shows a dilated esophagus with blind esophageal pouch as a sign of esophageal atresia.
Trisomy_18_Manohar_1
Trisomy_18_Manohar_2


Images 3,4
: Image 3 shows a deviated heart axis. Image 4 shows growth charts showing the symmetric growth restriction of the fetus.

Trisomy_18_Manohar_3
Trisomy_18_Manohar_4


Images 5-8: 3D-images showing clenched fists and overlapping fingers.

Trisomy_18_Manohar_5
Trisomy_18_Manohar_6


Trisomy_18_Manohar_7
Trisomy_18_Manohar_8


Video: Dilated esophagus.



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