Back to back CDH .

This was a 24 year old lady , gravida 2 , with one normal child. She has history of consanguinity.( married her mother’s step brother ).

This was referred for 2nd opinion for confirmation of CDH.

The following images were obtained .

R.V.,the LV outflow tract and  LA are seen in the colour image . The stomach is seen behind the LA. in the left hemithorax.

3d reconstruction clearly shows stomach in left hemithorax and the heart pushed to the right

3 d reconstruction with chroma

4 chamber view shows rt side of heart to be bigger than left side

RVOT, PULM ART, AORTA, SVC view appears normal

lvot view

right hand with persistent adducted thumb

persistently adducted left thumb

the feet appear to be normal

according to radiology review manual , adducted thumb = short 1st metacarpal + phalanges and is diagnostic of trisomy E syndrome ( 16 to 18 )

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by F Rypens – 2006 – Cited by 16 – Related articles
… flexed and ulnarly deviated  and the thumb is adducted. This position is constant during the examination and is strongly suggestive of trisomy 18