Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata
Background Rhizomelic chondrodysplasia punctata (RCDP) is a rare autosomal recessive inherited subtype of a family of congenital anomalies known as chondrodysplasia calcificans punctate (CCP). Given their low rate of occurrence, these cases are highly challenging to diagnose, and because the presenc...
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| Veröffentlicht in: | Journal of ultrasound 2023-06, Vol.26 (2), p.539-542 |
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| creator | Gerami, Reza Barkhordari, Shoresh |
| description | Background
Rhizomelic chondrodysplasia punctata (RCDP) is a rare autosomal recessive inherited subtype of a family of congenital anomalies known as chondrodysplasia calcificans punctate (CCP). Given their low rate of occurrence, these cases are highly challenging to diagnose, and because the presence of chondrodysplasia is an indication for legal abortion in Iran, such diagnosis is extremely critical.
Case Presentation
A 27-year-old white multipara was referred for obstetric ultrasonography at 17 weeks and 6 days of gestation because an ultrasonographic study performed at an outside institution revealed a short femur length. Given the patient’s positive family history of chondrodysplasia, she underwent targeted sonography to check the anomaly of the bone and cartilage. The key finding in the sonography was short bones for gestational age.
Conclusion
The important clue in this finding was the patient’s family history, which made the gynaecologist request an ultrasound to prevent the birth of a child with a congenital disorder. Genetic tests are usually performed on amniocentesis samples
.
Because the presence of chondrodysplasia is an indication for legal abortion in Iran, finally, the patient underwent legal abortion after amniocentesis and genetic tests. |
| doi_str_mv | 10.1007/s40477-022-00737-5 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2730643570</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2823654593</sourcerecordid><originalsourceid>FETCH-LOGICAL-c326t-79f4433682d52954285e152f67cb7ba985cd715df73233ff8deadcfcaf707103</originalsourceid><addsrcrecordid>eNp9kLtOwzAUhi0EoqXwAgwoEgtLwNc4GSvETarE0t1yfWlTJXawk6E8PS4pFzEw-djnO7-PPgAuEbxFEPK7SCHlPIcY5-lKeM6OwBSVvMh5RdDxr3oCzmLcQsgqwtEpmJCCIEYhnILF3PXGyV422dD0QUbv_DrIblOrTNdy7XysY-ZtFjb1u29Nk97VxjsdvN7FrpGxllk3ONWnjHNwYmUTzcXhnIHl48Py_jlfvD693M8XuSK46NNGllJCihJrhitGcckMYtgWXK34SlYlU5ojpi0nmBBrS22kVlZJyyFHkMzAzRjbBf82mNiLto7KNI10xg9RYE5gQQnje_T6D7r1Q3BpOYFLTApGk5JE4ZFSwccYjBVdqFsZdgJBsVctRtUiqRafqgVLQ1eH6GHVGv098uU2AWQEYmq5tQk_f_8T-wH_M4np</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2823654593</pqid></control><display><type>article</type><title>Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata</title><source>MEDLINE</source><source>Springer Nature - Complete Springer Journals</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>PubMed Central</source><creator>Gerami, Reza ; Barkhordari, Shoresh</creator><creatorcontrib>Gerami, Reza ; Barkhordari, Shoresh</creatorcontrib><description>Background
Rhizomelic chondrodysplasia punctata (RCDP) is a rare autosomal recessive inherited subtype of a family of congenital anomalies known as chondrodysplasia calcificans punctate (CCP). Given their low rate of occurrence, these cases are highly challenging to diagnose, and because the presence of chondrodysplasia is an indication for legal abortion in Iran, such diagnosis is extremely critical.
Case Presentation
A 27-year-old white multipara was referred for obstetric ultrasonography at 17 weeks and 6 days of gestation because an ultrasonographic study performed at an outside institution revealed a short femur length. Given the patient’s positive family history of chondrodysplasia, she underwent targeted sonography to check the anomaly of the bone and cartilage. The key finding in the sonography was short bones for gestational age.
Conclusion
The important clue in this finding was the patient’s family history, which made the gynaecologist request an ultrasound to prevent the birth of a child with a congenital disorder. Genetic tests are usually performed on amniocentesis samples
.
Because the presence of chondrodysplasia is an indication for legal abortion in Iran, finally, the patient underwent legal abortion after amniocentesis and genetic tests.</description><identifier>ISSN: 1876-7931</identifier><identifier>ISSN: 1971-3495</identifier><identifier>EISSN: 1876-7931</identifier><identifier>DOI: 10.1007/s40477-022-00737-5</identifier><identifier>PMID: 36315400</identifier><language>eng</language><publisher>Cham: Springer International Publishing</publisher><subject>Abortion ; Adult ; Amniocentesis ; Bones ; Case Report ; Child ; Chondrodysplasia Punctata, Rhizomelic - diagnostic imaging ; Chondrodysplasia Punctata, Rhizomelic - genetics ; Congenital anomalies ; Diagnosis ; Female ; Femur ; Genetic Testing ; Humans ; Indication ; Medicine ; Medicine & Public Health ; Pregnancy ; Prenatal Diagnosis ; Ultrasonic imaging ; Ultrasonography ; Ultrasonography, Prenatal ; Ultrasound</subject><ispartof>Journal of ultrasound, 2023-06, Vol.26 (2), p.539-542</ispartof><rights>Società Italiana di Ultrasonologia in Medicina e Biologia (SIUMB) 2022. Springer Nature or its licensor holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.</rights><rights>2022. Società Italiana di Ultrasonologia in Medicina e Biologia (SIUMB).</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c326t-79f4433682d52954285e152f67cb7ba985cd715df73233ff8deadcfcaf707103</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s40477-022-00737-5$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s40477-022-00737-5$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/36315400$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gerami, Reza</creatorcontrib><creatorcontrib>Barkhordari, Shoresh</creatorcontrib><title>Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata</title><title>Journal of ultrasound</title><addtitle>J Ultrasound</addtitle><addtitle>J Ultrasound</addtitle><description>Background
Rhizomelic chondrodysplasia punctata (RCDP) is a rare autosomal recessive inherited subtype of a family of congenital anomalies known as chondrodysplasia calcificans punctate (CCP). Given their low rate of occurrence, these cases are highly challenging to diagnose, and because the presence of chondrodysplasia is an indication for legal abortion in Iran, such diagnosis is extremely critical.
Case Presentation
A 27-year-old white multipara was referred for obstetric ultrasonography at 17 weeks and 6 days of gestation because an ultrasonographic study performed at an outside institution revealed a short femur length. Given the patient’s positive family history of chondrodysplasia, she underwent targeted sonography to check the anomaly of the bone and cartilage. The key finding in the sonography was short bones for gestational age.
Conclusion
The important clue in this finding was the patient’s family history, which made the gynaecologist request an ultrasound to prevent the birth of a child with a congenital disorder. Genetic tests are usually performed on amniocentesis samples
.
Because the presence of chondrodysplasia is an indication for legal abortion in Iran, finally, the patient underwent legal abortion after amniocentesis and genetic tests.</description><subject>Abortion</subject><subject>Adult</subject><subject>Amniocentesis</subject><subject>Bones</subject><subject>Case Report</subject><subject>Child</subject><subject>Chondrodysplasia Punctata, Rhizomelic - diagnostic imaging</subject><subject>Chondrodysplasia Punctata, Rhizomelic - genetics</subject><subject>Congenital anomalies</subject><subject>Diagnosis</subject><subject>Female</subject><subject>Femur</subject><subject>Genetic Testing</subject><subject>Humans</subject><subject>Indication</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Pregnancy</subject><subject>Prenatal Diagnosis</subject><subject>Ultrasonic imaging</subject><subject>Ultrasonography</subject><subject>Ultrasonography, Prenatal</subject><subject>Ultrasound</subject><issn>1876-7931</issn><issn>1971-3495</issn><issn>1876-7931</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kLtOwzAUhi0EoqXwAgwoEgtLwNc4GSvETarE0t1yfWlTJXawk6E8PS4pFzEw-djnO7-PPgAuEbxFEPK7SCHlPIcY5-lKeM6OwBSVvMh5RdDxr3oCzmLcQsgqwtEpmJCCIEYhnILF3PXGyV422dD0QUbv_DrIblOrTNdy7XysY-ZtFjb1u29Nk97VxjsdvN7FrpGxllk3ONWnjHNwYmUTzcXhnIHl48Py_jlfvD693M8XuSK46NNGllJCihJrhitGcckMYtgWXK34SlYlU5ojpi0nmBBrS22kVlZJyyFHkMzAzRjbBf82mNiLto7KNI10xg9RYE5gQQnje_T6D7r1Q3BpOYFLTApGk5JE4ZFSwccYjBVdqFsZdgJBsVctRtUiqRafqgVLQ1eH6GHVGv098uU2AWQEYmq5tQk_f_8T-wH_M4np</recordid><startdate>20230601</startdate><enddate>20230601</enddate><creator>Gerami, Reza</creator><creator>Barkhordari, Shoresh</creator><general>Springer International Publishing</general><general>Springer Nature B.V</general><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>20230601</creationdate><title>Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata</title><author>Gerami, Reza ; Barkhordari, Shoresh</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c326t-79f4433682d52954285e152f67cb7ba985cd715df73233ff8deadcfcaf707103</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Abortion</topic><topic>Adult</topic><topic>Amniocentesis</topic><topic>Bones</topic><topic>Case Report</topic><topic>Child</topic><topic>Chondrodysplasia Punctata, Rhizomelic - diagnostic imaging</topic><topic>Chondrodysplasia Punctata, Rhizomelic - genetics</topic><topic>Congenital anomalies</topic><topic>Diagnosis</topic><topic>Female</topic><topic>Femur</topic><topic>Genetic Testing</topic><topic>Humans</topic><topic>Indication</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Pregnancy</topic><topic>Prenatal Diagnosis</topic><topic>Ultrasonic imaging</topic><topic>Ultrasonography</topic><topic>Ultrasonography, Prenatal</topic><topic>Ultrasound</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gerami, Reza</creatorcontrib><creatorcontrib>Barkhordari, Shoresh</creatorcontrib><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>Journal of ultrasound</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gerami, Reza</au><au>Barkhordari, Shoresh</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata</atitle><jtitle>Journal of ultrasound</jtitle><stitle>J Ultrasound</stitle><addtitle>J Ultrasound</addtitle><date>2023-06-01</date><risdate>2023</risdate><volume>26</volume><issue>2</issue><spage>539</spage><epage>542</epage><pages>539-542</pages><issn>1876-7931</issn><issn>1971-3495</issn><eissn>1876-7931</eissn><abstract>Background
Rhizomelic chondrodysplasia punctata (RCDP) is a rare autosomal recessive inherited subtype of a family of congenital anomalies known as chondrodysplasia calcificans punctate (CCP). Given their low rate of occurrence, these cases are highly challenging to diagnose, and because the presence of chondrodysplasia is an indication for legal abortion in Iran, such diagnosis is extremely critical.
Case Presentation
A 27-year-old white multipara was referred for obstetric ultrasonography at 17 weeks and 6 days of gestation because an ultrasonographic study performed at an outside institution revealed a short femur length. Given the patient’s positive family history of chondrodysplasia, she underwent targeted sonography to check the anomaly of the bone and cartilage. The key finding in the sonography was short bones for gestational age.
Conclusion
The important clue in this finding was the patient’s family history, which made the gynaecologist request an ultrasound to prevent the birth of a child with a congenital disorder. Genetic tests are usually performed on amniocentesis samples
.
Because the presence of chondrodysplasia is an indication for legal abortion in Iran, finally, the patient underwent legal abortion after amniocentesis and genetic tests.</abstract><cop>Cham</cop><pub>Springer International Publishing</pub><pmid>36315400</pmid><doi>10.1007/s40477-022-00737-5</doi><tpages>4</tpages></addata></record> |
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| subjects | Abortion Adult Amniocentesis Bones Case Report Child Chondrodysplasia Punctata, Rhizomelic - diagnostic imaging Chondrodysplasia Punctata, Rhizomelic - genetics Congenital anomalies Diagnosis Female Femur Genetic Testing Humans Indication Medicine Medicine & Public Health Pregnancy Prenatal Diagnosis Ultrasonic imaging Ultrasonography Ultrasonography, Prenatal Ultrasound |
| title | Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata |
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