A Rare Disease with Arthrogryposis: Pena-Shokeir Syndrome

Abstract

Pena-Shokeir syndrome (PSS) type 1 is an autosomal recessive disease, characterized by arthrogryposis, facial anomalies, fetal growth restriction, polyhydramnios and pulmonary hypoplasia. Ultrasound features are varied and may overlap with those of trisomy 18. The neuromuscular abnormality of the diaphragm and intercostal muscles causes pulmonary hypoplasia, and consequently pulmonary hypoplasia is the primary cause of early death. PSS is a very rare syndrome and should be considered when indicators of the condition are encountered in fetal ultrasonic examination. It is important to perform an invasive procedure appropriate for the gestational week for the differential diagnosis of the condition. Our aim is to share the prenatal and postnatal process of the PSS case we diagnosed at 28 weeks of gestation.