Pena-Shokeir syndrome

Last revised by Dr Hamish Smith on 28 Apr 2019

The Pena-Shokeir syndrome (PSS) is an autosomal recessive nonaneuploidic condition with some clinical features being similar to that of trisomy 18. The condition is most often lethal. 

The estimated incidence is at ~1 in 12,000 births.

Features include 2,4:

Some consider the syndrome to be of two distinct types:

May show many of the above features. Some sonographic features may be detected as early as 16-18 weeks 8.  

The prognosis is very poor with ~30% of cases being stillborn, and another ~40% not surviving past the first few weeks and with the remainder not surviving beyond a few months. There may be a recurrence rate of ~10-15% for future pregnancies.

It was initially described by S D J Pena and M H K Shokeir in 1974 9.

General differential considerations include 8:

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