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.
Epidemiology
The estimated incidence is at ~1 in 12,000 births.
Clinical presentation
Features include :
- arthrogryposis which may in turn given many additional features such as:
- rockerbottom feet
- clenched hands
- webbing over joints
- facial anomalies: thought to be due to fetal akinesia
- camptodactyly
- polyhydramnios
- pulmonary hypoplasia
- intra-uterine growth restriction (IUGR)
Pathology
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
Associations
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 :
- trisomy 18
- Neu-Laxova syndrome
- multiple pterygium syndrome
- Larsen syndrome
- Potter sequence: typically has oligohydramnios
Siehe auch:
- Oligohydramnion
- Trisomie 18
- Larsen-Syndrom
- Potter-Sequenz
- Neu-Laxova-Syndrom
- Pena-Shokeir-Syndrom I
- multiple pterygium syndrome
und weiter:
Assoziationen und Differentialdiagnosen zu pseudo-trisomy 18:
