Prenatal findings on ultrasound and X‐ray in a case of overgrowth syndrome associated with increased nuchal translucency
Identifieur interne : 006F12 ( Istex/Corpus ); précédent : 006F11; suivant : 006F13Prenatal findings on ultrasound and X‐ray in a case of overgrowth syndrome associated with increased nuchal translucency
Auteurs : P. Schw Rzler ; T. Homfray ; S. Campbell ; Y. VilleSource :
- Prenatal Diagnosis [ 0197-3851 ] ; 2001-05.
Abstract
A case of prenatal diagnosis of an overgrowth syndrome at 30 weeks of gestation is reported. The diagnosis was suggested on the basis of increased fetal growth from 16 weeks onwards, advanced bone age, and characteristic facial features such as hypertelorism, broad forehead and small chin. The fetus presented at 12 weeks with a markedly increased nuchal translucency thickness and generalized skin edema, but normal karyotype. Serial ultrasound scans revealed brain abnormalities including mild unilateral ventriculomegaly and a cyst in the cavum septi pellucidi. The pregnancy was terminated at the parents' request at 32 weeks of gestation and postmortem examination confirmed the prenatal findings. This case demonstrates the possibility of prenatal diagnosis of early overgrowth syndromes and highlights the dilemma arising from the prenatal diagnosis of a non‐lethal condition associated with an uncertain prognosis and poorly documented in utero. Copyright © 2001 John Wiley & Sons, Ltd.
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DOI: 10.1002/pd.43
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The diagnosis was suggested on the basis of increased fetal growth from 16 weeks onwards, advanced bone age, and characteristic facial features such as hypertelorism, broad forehead and small chin. The fetus presented at 12 weeks with a markedly increased nuchal translucency thickness and generalized skin edema, but normal karyotype. Serial ultrasound scans revealed brain abnormalities including mild unilateral ventriculomegaly and a cyst in the cavum septi pellucidi. The pregnancy was terminated at the parents' request at 32 weeks of gestation and postmortem examination confirmed the prenatal findings. This case demonstrates the possibility of prenatal diagnosis of early overgrowth syndromes and highlights the dilemma arising from the prenatal diagnosis of a non‐lethal condition associated with an uncertain prognosis and poorly documented in utero. 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The diagnosis was suggested on the basis of increased fetal growth from 16 weeks onwards, advanced bone age, and characteristic facial features such as hypertelorism, broad forehead and small chin. The fetus presented at 12 weeks with a markedly increased nuchal translucency thickness and generalized skin edema, but normal karyotype. Serial ultrasound scans revealed brain abnormalities including mild unilateral ventriculomegaly and a cyst in the cavum septi pellucidi. The pregnancy was terminated at the parents' request at 32 weeks of gestation and postmortem examination confirmed the prenatal findings. This case demonstrates the possibility of prenatal diagnosis of early overgrowth syndromes and highlights the dilemma arising from the prenatal diagnosis of a non‐lethal condition associated with an uncertain prognosis and poorly documented <i>in utero</i>. Copyright © 2001 John Wiley & Sons, Ltd.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Prenatal findings on ultrasound and X‐ray in a case of overgrowth syndrome associated with increased nuchal translucency</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>PRENATAL DIAGNOSIS OF OVERGROWTH SYNDROME</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Prenatal findings on ultrasound and X‐ray in a case of overgrowth syndrome associated with increased nuchal translucency</title></titleInfo><name type="personal"><namePart type="given">P.</namePart><namePart type="family">Schwärzler</namePart><affiliation>Fetal Medicine Unit, St George's Hospital Medical School, London, UK</affiliation><affiliation>Department of Obstetrics and Gynecology, University Hospital Innsbruck, Austria</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">T.</namePart><namePart type="family">Homfray</namePart><affiliation>SW Thames Regional Genetics Service, St George's Hospital Medical School, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">S.</namePart><namePart type="family">Campbell</namePart><affiliation>Fetal Medicine Unit, St George's Hospital Medical School, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Y.</namePart><namePart type="family">Ville</namePart><affiliation>Fetal Medicine Unit, St George's Hospital Medical School, London, UK</affiliation><affiliation>Service de Gynecologie‐Obstetrique, Université Paris‐Ouest, Hôpital de Poissy‐St Germain, Rue du Champ Gaillard, 78303 Poissy Cedex. France.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="brief-communication" displayLabel="shortCommunication"></genre><originInfo><publisher>John Wiley & Sons, Ltd.</publisher><place><placeTerm type="text">Chichester, UK</placeTerm></place><dateIssued encoding="w3cdtf">2001-05</dateIssued><dateCaptured encoding="w3cdtf">2000-02-09</dateCaptured><dateValid encoding="w3cdtf">2000-12-03</dateValid><copyrightDate encoding="w3cdtf">2001</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">4</extent><extent unit="tables">1</extent><extent unit="references">11</extent></physicalDescription><abstract lang="en">A case of prenatal diagnosis of an overgrowth syndrome at 30 weeks of gestation is reported. The diagnosis was suggested on the basis of increased fetal growth from 16 weeks onwards, advanced bone age, and characteristic facial features such as hypertelorism, broad forehead and small chin. The fetus presented at 12 weeks with a markedly increased nuchal translucency thickness and generalized skin edema, but normal karyotype. Serial ultrasound scans revealed brain abnormalities including mild unilateral ventriculomegaly and a cyst in the cavum septi pellucidi. The pregnancy was terminated at the parents' request at 32 weeks of gestation and postmortem examination confirmed the prenatal findings. This case demonstrates the possibility of prenatal diagnosis of early overgrowth syndromes and highlights the dilemma arising from the prenatal diagnosis of a non‐lethal condition associated with an uncertain prognosis and poorly documented in utero. Copyright © 2001 John Wiley & Sons, Ltd.</abstract><subject lang="en"><genre>keywords</genre><topic>overgrowth syndrome</topic><topic>3‐D ultrasound</topic><topic>advanced bone age</topic><topic>facial dysmorphia</topic><topic>Weaver syndrome</topic><topic>Sotos syndrome</topic></subject><relatedItem type="host"><titleInfo><title>Prenatal Diagnosis</title></titleInfo><titleInfo type="abbreviated"><title>Prenat. Diagn.</title></titleInfo><genre type="journal">journal</genre><subject><genre>article-category</genre><topic>Short Communication</topic></subject><identifier type="ISSN">0197-3851</identifier><identifier type="eISSN">1097-0223</identifier><identifier type="DOI">10.1002/(ISSN)1097-0223</identifier><identifier type="PublisherID">PD</identifier><part><date>2001</date><detail type="volume"><caption>vol.</caption><number>21</number></detail><detail type="issue"><caption>no.</caption><number>5</number></detail><extent unit="pages"><start>341</start><end>345</end><total>5</total></extent></part></relatedItem><identifier type="istex">ECDBA2A1BE2BE7B09466676F606096ED888BB63F</identifier><identifier type="DOI">10.1002/pd.43</identifier><identifier type="ArticleID">PD43</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2001 John Wiley & Sons, Ltd.</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>John Wiley & Sons, Ltd.</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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