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2001-11-01-12 Answer to the case of the week #60 © Bronshtein http://www.thefetus.net/

Answer to case #60

October 12-November 1,  2001

Moshe Bronshtein, MD, Etan Zimmer, MD

Haifa, Israel

A 15 week fetus with no risk factor. The following images were obtained:

The upper thorax (there is also a short 1 MB videoclip) demonstrates asymmetry of the soft-tissues of the upper chest wall. Note that we know this is the upper chest wall since we are at the level of the pulmonary arch. The soft-tissues on the right side of the chest are thinner then on the left side (we know which side is which from the position of the pulmonary artery).

 

  

The right (on the left of the image) and left hand (on the right of the image). The whole right hand digit are seen while on these frames only some of the left hand digits are visible, but other frames demonstrated unremarkable left digits (there is also a short 05. MB videoclip which better demonstrates the finding then the images). Overall the right hand appears smaller then the left hand.

 

Findings:

Thus the findings were simply that:

  • the soft-tissues of the upper right chest were hypoplastic compared to the contralateral side. The bulk of those soft-tissue is composed of the pectoralis major muscle
  • the right hand was hypotrophic too.

These findings were confirmed at autopsy: the external aspect of the chest with the hypoplastic pectoralis major, 

the dissection of the chest with the asymmetry of the muscle layer

and the hypotrophic hands:

Putting the keywords: pectoralis hand hypoplasia in OMIM yielded the following syndromes:

173800 POLAND SYNDROME
#142900 HOLT-ORAM SYNDROME; HOS
#161200 NAIL-PATELLA SYNDROME; NPS

Of which Poland syndrome was the clear correct choice.

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