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Prenatal sonographic diagnosis of Majewski syndrome

✍ Scribed by Supatra Sirichotiyakul; Theera Tongsong; Chanane Wanapirak; Pharuhas Chanprapaph

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 171 KB
Volume: 30
Category: Article
ISSN: 0091-2751
DOI: 10.1002/jcu.10066

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✦ Synopsis

Abstract

Majewski syndrome is an autosomal recessive disorder characterized by short ribs, polydactyly, short limbs, and a cleft lip. A 26‐year‐old woman with no family history of genetic diseases presented at 31 weeks' menstrual age with preterm labor and underwent prenatal sonography to screen for fetal anomalies. Sonography revealed a small thorax, markedly short ribs, micromelia, polydactyly, a cleft lip, dolichocephaly, and severe oligohydramnios. The other structures appeared normal. The most likely diagnosis was Majewski syndrome. Vaginal breech delivery was allowed to proceed. The 1,850‐g male newborn died of respiratory failure shortly after birth. The postnatal appearance and radiographs confirmed the prenatal diagnosis. © 2002 Wiley Periodicals, Inc. J Clin Ultrasound 30:303–307, 2002; Published online in Wiley InterScience (www. interscience.wiley.com). DOI: 10.1002/jcu.10066

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