Paper

First Trimester Ultrasound Diagnosis of Lethal Multiple Pterygium Syndrome
Munire Gundogan^a, Katherine Fong^a, Sarah Keating^b, Jacqueline Pierre-Louis^c, David Chitayat<sup>c, d

a</sup>Department of Medical Imaging, Mount Sinai Hospital,
^bDepartment of Pathology and Laboratory Medicine, Mount Sinai Hospital,
^cDepartment of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital,
^dDepartment of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Canada

Address of Corresponding Author

Fetal Diagn Ther 2006;21:466-470 (DOI: 10.1159/000093890)

  Key Words

• Lethal multiple pterygium syndrome
• First trimester diagnosis
• Transvaginal ultrasound
• Webbing
• Cystic hygroma

  Abstract

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.

Copyright © 2006 S. Karger AG, Basel

  Author Contacts

Dr. D. Chitayat
The Prenatal Diagnosis and Medical Genetics Program
Mount Sinai Hospital, Ontario Hydro Generation Building
700 University Avenue, 3rd floor, Rm. 3292, Toronto, Ontario (Canada)
Tel. +1 416 586 4523, Fax +1 416 586 4723, E-Mail dchitayat@rogers.com

  Article Information

Received: March 23, 2005
Accepted after revision: November 16, 2005
Number of Print Pages : 5
Number of Figures : 2, Number of Tables : 2, Number of References : 26