| Antenatal three-dimensional sonographic features of Roberts syndrome. | |
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MedLine Citation:
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PMID: 21533789 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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INTRODUCTION: We present a fetus whose characteristics most likely represent Roberts syndrome. CASE REPORT: Prenatal diagnosis at 21 weeks and 1 day age of gestation was made employing conventional two-dimensional (2D) sonography, showing shortened upper and lower extremities. An umbilical cord cyst was also noted. Three-dimensional (3D) sonography revealed additional abnormalities which included bilateral hypoplastic and proximal implantation of the thumb, exophthalmic eyes, and suspected cleft lip. Shortened upper extremities, contracted legs, and an umbilical cord cyst were also clearly confirmed. Transparent X-ray mode uncovered the absence of radial and ulnar bones. Subtle fetal structures were readily discernible with 3D sonography so that the family could understand the fetal condition in utero. They underwent counseling, and opted for termination of the pregnancy. The sonographic findings were confirmed after delivery, supported by a 3D computed tomographic skeletal survey. CONCLUSION: To the best of our knowledge, this is the first report of Roberts syndrome employing antenatal 3D sonographic imaging. |
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Authors:
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Daisy J Dulnuan; Megumi Matsuoka; Emiko Uketa; Keiji Hayashi; Jun Murotsuki; Gen Nishimura; Toshiyuki Hata |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-5-1 |
Journal Detail:
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Title: Archives of gynecology and obstetrics Volume: - ISSN: 1432-0711 ISO Abbreviation: - Publication Date: 2011 May |
Date Detail:
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Created Date: 2011-5-2 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8710213 Medline TA: Arch Gynecol Obstet Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Department of Perinatology and Gynecology, Kagawa University School of Medicine, 1750-1 Ikenobe, Miki, Kagawa, 761-0793, Japan. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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