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.


CONCLUSIONS
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.
Gundogan
Munire
M
Department of Medical Imaging, Mount Sinai Hospital, Toronto, Ontario, Canada.
Fong
Katherine
K
Keating
Sarah
S
Pierre-Louis
Jacqueline
J
Chitayat
David
D
D000328:Adult; D003286:Contracture / Q000000981:diagnostic imaging*; D005260:Female; D005313:Fetal Death / Q000209:etiology; D005324:Fetal Movement; D006801:Humans; D007596:Joints / Q000002:abnormalities*; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011625:Pterygium; D013577:Syndrome; D016216:Ultrasonography, Prenatal