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2010-09-29-09 Lethal multiple pterygium syndrome © Cuillier
Lethal multiple pterygium syndrome

Fabrice Cuillier, MD.*, J.L. Alessandri, MD.**

*  Service de Gynécologie-Obstétrique, Hôpital Félix Guyon, Saint-Denis de La Réunion, France.
** Service de Neonatolgie, Félix Guyon Hospital, 97400 Saint-Denis, Réunion Island, France.

Case report

A 40-year-old, G6 P5, was referred to our antenal unit at 12 weeks of gestation. According to the referral physician, the fetus had cystic hygroma colli and increased nuchal translucency.
Our ultrasound examination confirmed the findings: cystic hygroma colli, nuchal translucency - 14 mm. There was a depressed nasal bridge on the fetal profile. Fetus did not show any movement of the extremities. The upper extremities had permanent flexion of the elbows and wrists. The lower extremities were technically difficult to examine.

Our differential diagnosis included lethal skeletal dysplasia. Patient opted for the termination of the pregnancy based on the ultrasound findings. The fetal karyotype was normal. Pathology examination showed normal length of the long bones. There was skin webbing of all the major joints. The muscle examination showed decreased number of muscle fibers with delayed maturation.

The final diagnosis was Lethal multiple pterygium syndrome.  

Images 1,2: Image 1 shows the profile with depressed nasal bridge. Image 2 shows the hygroma colli.

Images 3,4: Image 3 shows transverse view of the occipital region, note the increased nuchal translucency. Image 4 shows transverse view of the fetal abdomen with upper extremities placed on the abdominal wall.

Images 5,6: Upper extremity with flexion in the elbow and wrist joint.

Images 7,8: 3D-images of the flexed upper extremity.

Image 9: Lower extremities.

Image 10: X-ray image of the fetus showing the abnormal joint contractures.

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