Pena-Shokeir syndrome

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.

Clinical presentation

Features include :


Some consider the syndrome to be of two distinct types:

  • Pena Shokeir syndrome type I: some publications consider this to fall under the same spectrum of the fetal akinesia sequence
  • Pena Shokeir syndrome type II

Radiographic features

Antenatal ultrasound

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

Treatment and prognosis

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.

History and etymology

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

Differential diagnosis

General differential considerations include :

Siehe auch:
und weiter: