Recurrent Lethal Multiple Pterygium Syndrome: Prenatal ultrasonographic and postmortem findings

Objective: Multiple pterygium syndrome (MPS) covers a disorders characterized by multiple congenital anomalies typified by pterygia of the neck, elbows, and knees and associated with limited fetal movement and joint contractures. The lethal forms of this condition frequently exhibit multiple fetal abnormalities. We aimed to discuss a recurrent MPS case with the patient’ s pedigree, ultrasonographic and postmortem findings. Case: We are presenting a 29-year-old, gravida 5 para 4 woman with a diagnosis of recurrent MPS whose pregnancy was terminated on her 20th gestational week. Conclusion: MPS is found to be a rare cause of recurrent midtrimester pregnancy losses in which the inheritance may be autosomal or Xlinked recessive. Genetic counseling and pedigree analysis are the important steps in the evaluation of recurrent MPS subjects. Although researches for the understanding of the underlying mechanisms of this syndrome are promising, obstetric ultrasound is still the gold standard diagnostic technique.