First trimester ultrasound diagnosis of lethal multiple pterygium syndrome.

OBJECTIVE

Diagnosis of lethal multiple pterygium syndrome in the first trimester of pregnancy.

METHODS

A 38-year-old woman attended our ultrasound (US) clinic at 11.2 weeks gestation. She has had two previous stillbirths affected by lethal multiple pterygium syndrome. Transabdominal and transvaginal US were performed and identified a recurrence. Autopsy findings are compared to the fetal US findings.

RESULTS

Fetal US showed a markedly increased nuchal translucency, fixed flexion deformities of the elbows and knees bilaterally, cutaneous webs across both elbow joints and absent fetal movements. The patient decided to terminate the pregnancy and a D&C was performed. Pathology of intact fetal parts showed flexion deformity of the right elbow with a cutaneous web, and ulnar deviation of the right wrist.

CONCLUSION

Increased nuchal translucency, absent limb movements, multiple joint contractures and cutaneous webs on US allowed the diagnosis of lethal multiple pterygium syndromes in the first trimester of pregnancy.