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Review
. 2018 Oct 25:11:111-120.
doi: 10.2147/TACG.S154643. eCollection 2018.

Pena-Shokeir syndrome: current management strategies and palliative care

Sumaiya Adam  1 , Melantha Coetzee  2 , Engela Magdalena Honey  3
Affiliations
Review

Pena-Shokeir syndrome: current management strategies and palliative care

Sumaiya Adam et al. Appl Clin Genet. .

Abstract

Pena-Shokeir syndrome (PSS) type 1, also known as fetal akinesia deformation sequence, is a rare genetic syndrome that almost always results in intrauterine or early neonatal death. It is characterized by markedly decreased fetal movements, intrauterine growth restriction, joint contractures, short umbilical cord, and features of pulmonary hypoplasia. Antenatal diagnosis can be difficult. Ultrasound features are varied and may overlap with those of Trisomy 18. The poor prognosis of PSS is due to pulmonary hypoplasia, which is an important feature that distinguishes PSS from arthrogryposis multiplex congenital without pulmonary hypoplasia, which has a better prognosis. If diagnosed in the antenatal period, a late termination of pregnancy can be considered following ethical discussion (if the law allows). In most cases, a diagnosis is only made in the neonatal period. Parents of a baby affected with PSS require detailed counseling that includes information on the imprecise recurrence risks and a plan for subsequent pregnancies.

Keywords: comfort care; fetal akinesia deformation sequence; ultrasound.

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Conflict of interest statement

Disclosure The authors report no conflicts of interest in this work.

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