Volume 39, Issue 1 p. 344-346
Case Report

Discordance in Pena–Shokeir phenotype/fetal akinesia deformation sequence in a monoamniotic twin

Miyuki Mayumi

Miyuki Mayumi

Departments of Obstetrics & Gynecology

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Mana Obata-Yasuoka

Corresponding Author

Mana Obata-Yasuoka

Departments of Obstetrics & Gynecology

Dr Mana Obata-Yasuoka, Department of Obstetrics & Gynecology, Faculty of Medicine, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki 305-8575, Japan. Email: [email protected]Search for more papers by this author
Tsuyoshi Ogura

Tsuyoshi Ogura

Departments of Obstetrics & Gynecology

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Hiromi Hamada

Hiromi Hamada

Departments of Obstetrics & Gynecology

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Yayoi Miyazono

Yayoi Miyazono

Pediatrics, Faculty of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan

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Hiroyuki Yoshikawa

Hiroyuki Yoshikawa

Departments of Obstetrics & Gynecology

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First published: 06 July 2012
Citations: 6

Abstract

We here report the first case of discordant Pena–Shokeir phenotype observed in monoamniotic twins. A 34-year-old woman, pregnant with twins, was referred at 10 weeks' gestation because one of the twins had increased nuchal translucency. Serial ultrasonographic examinations suggested that twin A may have had several other abnormalities, including pleural effusion at 21 weeks' gestation, decreased movement and contracted limbs at 24 weeks, and fetal growth restriction at 26 weeks. No abnormalities were observed in twin B. At 34 weeks of gestation, the twins were delivered by cesarean section. There were cord entanglements, and although the resuscitation of twin A was attempted, it proved difficult due to lockjaw. Twin A died during the second hour of life, and autopsy findings were consistent with the diagnosis of Pena–Shokeir phenotype. We suggest that cord entanglement during early gestation is a possible cause for the occurrence of Pena–Shokeir phenotype through an anoxic-ischemic mechanism.