Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report and review of the literature
Objectives To report a case of EEC syndrome with a large nephrogenic cyst detected by prenatal ultrasonography. Methods Prenatal ultrasonographic detection, genetic counselling, termination of pregnancy, radiographic study, autopsy and ultrastructural study of scalp hair. The literature on EEC syndr...
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| Veröffentlicht in: | Prenatal diagnosis 2005-03, Vol.25 (3), p.210-215 |
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| creator | Chuangsuwanich, Tuenjai Sunsaneevithayakul, Prasert Muangsomboon, Kobkun Limwongse, Chanin |
| description | Objectives
To report a case of EEC syndrome with a large nephrogenic cyst detected by prenatal ultrasonography.
Methods
Prenatal ultrasonographic detection, genetic counselling, termination of pregnancy, radiographic study, autopsy and ultrastructural study of scalp hair. The literature on EEC syndrome with genitourinary anomalies and prenatal diagnosis was also reviewed.
Results
A 6‐cm cyst in the right side of abdominal cavity was detected in a fetus of 24 weeks' gestational age with severe oligohydramnios and hydrops fetalis. The autopsy revealed bilateral renal dysplasia with a large nephrogenic cyst at the right side and markedly hypoplastic urinary bladder and pulmonary hypoplasia. The fetus also had ectrodactyly and syndactyly of hands and feet and ectodermal dysplasia and left cleft lip and palate. Ultrastructure of hair from scanning electron microscopy revealed no obvious abnormality.
Conclusion
This is a rare case of fetal malformation partly detected prenatally. In order to detect this syndrome, careful ultrasound search for acral anomalies should be performed in cases with renal malformation or obstructive uropathy. Copyright © 2005 John Wiley & Sons, Ltd. |
| doi_str_mv | 10.1002/pd.1101 |
| format | Article |
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To report a case of EEC syndrome with a large nephrogenic cyst detected by prenatal ultrasonography.
Methods
Prenatal ultrasonographic detection, genetic counselling, termination of pregnancy, radiographic study, autopsy and ultrastructural study of scalp hair. The literature on EEC syndrome with genitourinary anomalies and prenatal diagnosis was also reviewed.
Results
A 6‐cm cyst in the right side of abdominal cavity was detected in a fetus of 24 weeks' gestational age with severe oligohydramnios and hydrops fetalis. The autopsy revealed bilateral renal dysplasia with a large nephrogenic cyst at the right side and markedly hypoplastic urinary bladder and pulmonary hypoplasia. The fetus also had ectrodactyly and syndactyly of hands and feet and ectodermal dysplasia and left cleft lip and palate. Ultrastructure of hair from scanning electron microscopy revealed no obvious abnormality.
Conclusion
This is a rare case of fetal malformation partly detected prenatally. In order to detect this syndrome, careful ultrasound search for acral anomalies should be performed in cases with renal malformation or obstructive uropathy. Copyright © 2005 John Wiley & Sons, Ltd.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.1101</identifier><identifier>PMID: 15791665</identifier><identifier>CODEN: PRDIDM</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>Abnormalities, Multiple - diagnostic imaging ; Abortion, Induced ; Adult ; Biological and medical sciences ; Birth control ; Cysts - complications ; Cysts - diagnostic imaging ; Dermatology ; Ectodermal Dysplasia - complications ; EEC syndrome ; Female ; Fetal Diseases - diagnostic imaging ; Gynecology. Andrology. Obstetrics ; Hair and nails disorders ; Hormonal contraception ; Humans ; hydrops fetalis ; Hydrops Fetalis - complications ; Hydrops Fetalis - diagnostic imaging ; Kidney Diseases - complications ; Kidney Diseases - diagnostic imaging ; Limb Deformities, Congenital - complications ; Male ; Medical sciences ; Mouth Abnormalities - complications ; Oligohydramnios - complications ; Oligohydramnios - diagnostic imaging ; Pregnancy ; prenatal diagnosis ; renal dysplasia ; Syndrome ; ultrasonography ; Ultrasonography, Prenatal</subject><ispartof>Prenatal diagnosis, 2005-03, Vol.25 (3), p.210-215</ispartof><rights>Copyright © 2005 John Wiley & Sons, Ltd.</rights><rights>2005 INIST-CNRS</rights><rights>Copyright 2005 John Wiley & Sons, Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3831-c0a1d9b8e79e8d0f64ed9cdd19322bb7f2bfe71f77bce9f34d64523ea7aaa4bc3</citedby><cites>FETCH-LOGICAL-c3831-c0a1d9b8e79e8d0f64ed9cdd19322bb7f2bfe71f77bce9f34d64523ea7aaa4bc3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fpd.1101$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fpd.1101$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27903,27904,45553,45554</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=16662148$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15791665$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chuangsuwanich, Tuenjai</creatorcontrib><creatorcontrib>Sunsaneevithayakul, Prasert</creatorcontrib><creatorcontrib>Muangsomboon, Kobkun</creatorcontrib><creatorcontrib>Limwongse, Chanin</creatorcontrib><title>Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report and review of the literature</title><title>Prenatal diagnosis</title><addtitle>Prenat. Diagn</addtitle><description>Objectives
To report a case of EEC syndrome with a large nephrogenic cyst detected by prenatal ultrasonography.
Methods
Prenatal ultrasonographic detection, genetic counselling, termination of pregnancy, radiographic study, autopsy and ultrastructural study of scalp hair. The literature on EEC syndrome with genitourinary anomalies and prenatal diagnosis was also reviewed.
Results
A 6‐cm cyst in the right side of abdominal cavity was detected in a fetus of 24 weeks' gestational age with severe oligohydramnios and hydrops fetalis. The autopsy revealed bilateral renal dysplasia with a large nephrogenic cyst at the right side and markedly hypoplastic urinary bladder and pulmonary hypoplasia. The fetus also had ectrodactyly and syndactyly of hands and feet and ectodermal dysplasia and left cleft lip and palate. Ultrastructure of hair from scanning electron microscopy revealed no obvious abnormality.
Conclusion
This is a rare case of fetal malformation partly detected prenatally. In order to detect this syndrome, careful ultrasound search for acral anomalies should be performed in cases with renal malformation or obstructive uropathy. Copyright © 2005 John Wiley & Sons, Ltd.</description><subject>Abnormalities, Multiple - diagnostic imaging</subject><subject>Abortion, Induced</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Birth control</subject><subject>Cysts - complications</subject><subject>Cysts - diagnostic imaging</subject><subject>Dermatology</subject><subject>Ectodermal Dysplasia - complications</subject><subject>EEC syndrome</subject><subject>Female</subject><subject>Fetal Diseases - diagnostic imaging</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Hair and nails disorders</subject><subject>Hormonal contraception</subject><subject>Humans</subject><subject>hydrops fetalis</subject><subject>Hydrops Fetalis - complications</subject><subject>Hydrops Fetalis - diagnostic imaging</subject><subject>Kidney Diseases - complications</subject><subject>Kidney Diseases - diagnostic imaging</subject><subject>Limb Deformities, Congenital - complications</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Mouth Abnormalities - complications</subject><subject>Oligohydramnios - complications</subject><subject>Oligohydramnios - diagnostic imaging</subject><subject>Pregnancy</subject><subject>prenatal diagnosis</subject><subject>renal dysplasia</subject><subject>Syndrome</subject><subject>ultrasonography</subject><subject>Ultrasonography, Prenatal</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp10cuO0zAUBuAIgZgyIN4AecNNkMGOmzhhh0qnII0GhLgsrRP7uDXjxMF2p-TVeDrSacWsWNmWP_1HR3-WPWb0jFFavBn0GWOU3clmjDYip0XB72YzyqY7r0t2kj2I8ecE66IR97MTVoqGVVU5y_4sVQpeg0qjG3NUyWsMHTiixzg4iBZy5dAk26_Ji-Vy8ZLEsdfBd0iGgBH7m5-dTRsCxEFYI-lx2AS_xt4qosaYXpOI1xiQeGfXfjPqAF1vfSTQa7J_-iESgwmcjW-nFAURScDBh3RDAl5b3BFvSNogcTZhgLQN-DC7Z8BFfHQ8T7Nv58uviw_5xafVx8W7i1zxmrNcUWC6aWsUDdaammqOulFas4YXRdsKU7QGBTNCtAobw-e6mpcFRxAAMG8VP82eHXKH4H9tMSbZ2ajQOejRb6OsRNXUgrIJPj9AFXyMAY0cgu0gjJJRua9JDlrua5rkk2Pktu1Q37pjLxN4egQQFTgToFc23rqqqgo2ryf36uB21uH4v3ny8_vj2PygbUz4-5-GcDUtwUUpf1yuJOPfz5tLsZJf-F_Em7xT</recordid><startdate>200503</startdate><enddate>200503</enddate><creator>Chuangsuwanich, Tuenjai</creator><creator>Sunsaneevithayakul, Prasert</creator><creator>Muangsomboon, Kobkun</creator><creator>Limwongse, Chanin</creator><general>John Wiley & Sons, Ltd</general><general>Wiley</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>200503</creationdate><title>Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report and review of the literature</title><author>Chuangsuwanich, Tuenjai ; Sunsaneevithayakul, Prasert ; Muangsomboon, Kobkun ; Limwongse, Chanin</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3831-c0a1d9b8e79e8d0f64ed9cdd19322bb7f2bfe71f77bce9f34d64523ea7aaa4bc3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Abnormalities, Multiple - diagnostic imaging</topic><topic>Abortion, Induced</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Birth control</topic><topic>Cysts - complications</topic><topic>Cysts - diagnostic imaging</topic><topic>Dermatology</topic><topic>Ectodermal Dysplasia - complications</topic><topic>EEC syndrome</topic><topic>Female</topic><topic>Fetal Diseases - diagnostic imaging</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Hair and nails disorders</topic><topic>Hormonal contraception</topic><topic>Humans</topic><topic>hydrops fetalis</topic><topic>Hydrops Fetalis - complications</topic><topic>Hydrops Fetalis - diagnostic imaging</topic><topic>Kidney Diseases - complications</topic><topic>Kidney Diseases - diagnostic imaging</topic><topic>Limb Deformities, Congenital - complications</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Mouth Abnormalities - complications</topic><topic>Oligohydramnios - complications</topic><topic>Oligohydramnios - diagnostic imaging</topic><topic>Pregnancy</topic><topic>prenatal diagnosis</topic><topic>renal dysplasia</topic><topic>Syndrome</topic><topic>ultrasonography</topic><topic>Ultrasonography, Prenatal</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chuangsuwanich, Tuenjai</creatorcontrib><creatorcontrib>Sunsaneevithayakul, Prasert</creatorcontrib><creatorcontrib>Muangsomboon, Kobkun</creatorcontrib><creatorcontrib>Limwongse, Chanin</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chuangsuwanich, Tuenjai</au><au>Sunsaneevithayakul, Prasert</au><au>Muangsomboon, Kobkun</au><au>Limwongse, Chanin</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report and review of the literature</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat. Diagn</addtitle><date>2005-03</date><risdate>2005</risdate><volume>25</volume><issue>3</issue><spage>210</spage><epage>215</epage><pages>210-215</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>Objectives
To report a case of EEC syndrome with a large nephrogenic cyst detected by prenatal ultrasonography.
Methods
Prenatal ultrasonographic detection, genetic counselling, termination of pregnancy, radiographic study, autopsy and ultrastructural study of scalp hair. The literature on EEC syndrome with genitourinary anomalies and prenatal diagnosis was also reviewed.
Results
A 6‐cm cyst in the right side of abdominal cavity was detected in a fetus of 24 weeks' gestational age with severe oligohydramnios and hydrops fetalis. The autopsy revealed bilateral renal dysplasia with a large nephrogenic cyst at the right side and markedly hypoplastic urinary bladder and pulmonary hypoplasia. The fetus also had ectrodactyly and syndactyly of hands and feet and ectodermal dysplasia and left cleft lip and palate. Ultrastructure of hair from scanning electron microscopy revealed no obvious abnormality.
Conclusion
This is a rare case of fetal malformation partly detected prenatally. In order to detect this syndrome, careful ultrasound search for acral anomalies should be performed in cases with renal malformation or obstructive uropathy. Copyright © 2005 John Wiley & Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>15791665</pmid><doi>10.1002/pd.1101</doi><tpages>6</tpages></addata></record> |
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| identifier | ISSN: 0197-3851 |
| ispartof | Prenatal diagnosis, 2005-03, Vol.25 (3), p.210-215 |
| issn | 0197-3851 1097-0223 |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Abnormalities, Multiple - diagnostic imaging Abortion, Induced Adult Biological and medical sciences Birth control Cysts - complications Cysts - diagnostic imaging Dermatology Ectodermal Dysplasia - complications EEC syndrome Female Fetal Diseases - diagnostic imaging Gynecology. Andrology. Obstetrics Hair and nails disorders Hormonal contraception Humans hydrops fetalis Hydrops Fetalis - complications Hydrops Fetalis - diagnostic imaging Kidney Diseases - complications Kidney Diseases - diagnostic imaging Limb Deformities, Congenital - complications Male Medical sciences Mouth Abnormalities - complications Oligohydramnios - complications Oligohydramnios - diagnostic imaging Pregnancy prenatal diagnosis renal dysplasia Syndrome ultrasonography Ultrasonography, Prenatal |
| title | Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report and review of the literature |
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