The Escobar variant of multiple pterygium syndrome (MPS) is a rare, autosomal 
recessive disorder which may lead to many serious or even lethal fetal 
abnormalities. MPS is characterized by pterygia, arthrogryposis (joint 
contractures), and intrauterine growth restriction (IUGR). In the case described 
below, increased fetal nuchal translucency was the first abnormality diagnosed 
already in the first trimester of pregnancy. Other symptoms of the disease were 
found during the second trimester of pregnancy using ultrasonography 
examination. Also, genetic amniocentesis revealed no genetic disorders and the 
Escobar syndrome was diagnosed post mortem. Parental and maternal genetic 
examinations were performed and allowed for early prenatal diagnostics in the 
next pregnancy resulting in the birth of a healthy newborn.