Sibs with the fetal akinesia sequence, fetal edema, and malformations: A new syndrome?
Pena and Shokeir [J Pediatr 85:373–375. 1974] first described a syndrome characterized by multiple ankyloses, camptodactyly, facial anomalies, and pulmonary hypoplasia, which was later termed Pena‐Shokeir I syndrome. Recent evidence suggests that a more accurate designation for this condition is the...
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| Veröffentlicht in: | American journal of medical genetics 1985-06, Vol.21 (2), p.271-277 |
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| creator | Toriello, Helga V. Bauserman, Steven C. Higgins, James V. Opitz, John M. Reynolds, James F. |
| description | Pena and Shokeir [J Pediatr 85:373–375. 1974] first described a syndrome characterized by multiple ankyloses, camptodactyly, facial anomalies, and pulmonary hypoplasia, which was later termed Pena‐Shokeir I syndrome. Recent evidence suggests that a more accurate designation for this condition is the fetal akinesia sequence, which is almost certainly a heterogeneous entity. We describe sibs who were diagnosed as having Pena‐Shokeir I syndrome but who did not have the muscular or anterior horn cell changes characteristic of other infants with the fetal akinesia sequence. In addition, both sibs had fetal edema, the first sib had coarctation of the aorta, and the second had polydactyly and thyroid hypoplasia. We suggest that this case provides further evidence for heterogeneity in the fetal akinesia sequence and may represent a provisionally unique syndrome. |
| doi_str_mv | 10.1002/ajmg.1320210208 |
| format | Article |
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Recent evidence suggests that a more accurate designation for this condition is the fetal akinesia sequence, which is almost certainly a heterogeneous entity. We describe sibs who were diagnosed as having Pena‐Shokeir I syndrome but who did not have the muscular or anterior horn cell changes characteristic of other infants with the fetal akinesia sequence. In addition, both sibs had fetal edema, the first sib had coarctation of the aorta, and the second had polydactyly and thyroid hypoplasia. We suggest that this case provides further evidence for heterogeneity in the fetal akinesia sequence and may represent a provisionally unique syndrome.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320210208</identifier><identifier>PMID: 4040328</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Abnormalities, Multiple - genetics ; Aortic Coarctation - genetics ; arthrogryposis ; autosomal recessive inheritance ; Biological and medical sciences ; Complex syndromes ; Edema - genetics ; Female ; fetal akinesia ; Fetal Diseases - genetics ; Fetal Movement ; Fingers - abnormalities ; Genes, Recessive ; heterogeneity ; Humans ; hydrops fetalis ; Infant, Newborn ; joint contractures ; Medical genetics ; Medical sciences ; multiple anomalies ; Pena-Shokeir I syndrome ; Phenotype ; polyhydramnios ; Pregnancy ; Syndrome ; Thyroid Gland - abnormalities</subject><ispartof>American journal of medical genetics, 1985-06, Vol.21 (2), p.271-277</ispartof><rights>Copyright © 1985 Wiley‐Liss, Inc., A Wiley Company</rights><rights>1986 INIST-CNRS</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4718-c7a111ce6f0ad2e8e9fc50b935e9f76e84d499602250a7bd16ec36ff106fc5c83</citedby><cites>FETCH-LOGICAL-c4718-c7a111ce6f0ad2e8e9fc50b935e9f76e84d499602250a7bd16ec36ff106fc5c83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=8550227$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/4040328$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Toriello, Helga V.</creatorcontrib><creatorcontrib>Bauserman, Steven C.</creatorcontrib><creatorcontrib>Higgins, James V.</creatorcontrib><creatorcontrib>Opitz, John M.</creatorcontrib><creatorcontrib>Reynolds, James F.</creatorcontrib><title>Sibs with the fetal akinesia sequence, fetal edema, and malformations: A new syndrome?</title><title>American journal of medical genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>Pena and Shokeir [J Pediatr 85:373–375. 1974] first described a syndrome characterized by multiple ankyloses, camptodactyly, facial anomalies, and pulmonary hypoplasia, which was later termed Pena‐Shokeir I syndrome. Recent evidence suggests that a more accurate designation for this condition is the fetal akinesia sequence, which is almost certainly a heterogeneous entity. We describe sibs who were diagnosed as having Pena‐Shokeir I syndrome but who did not have the muscular or anterior horn cell changes characteristic of other infants with the fetal akinesia sequence. In addition, both sibs had fetal edema, the first sib had coarctation of the aorta, and the second had polydactyly and thyroid hypoplasia. We suggest that this case provides further evidence for heterogeneity in the fetal akinesia sequence and may represent a provisionally unique syndrome.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Aortic Coarctation - genetics</subject><subject>arthrogryposis</subject><subject>autosomal recessive inheritance</subject><subject>Biological and medical sciences</subject><subject>Complex syndromes</subject><subject>Edema - genetics</subject><subject>Female</subject><subject>fetal akinesia</subject><subject>Fetal Diseases - genetics</subject><subject>Fetal Movement</subject><subject>Fingers - abnormalities</subject><subject>Genes, Recessive</subject><subject>heterogeneity</subject><subject>Humans</subject><subject>hydrops fetalis</subject><subject>Infant, Newborn</subject><subject>joint contractures</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>multiple anomalies</subject><subject>Pena-Shokeir I syndrome</subject><subject>Phenotype</subject><subject>polyhydramnios</subject><subject>Pregnancy</subject><subject>Syndrome</subject><subject>Thyroid Gland - abnormalities</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1985</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkElvFDEQhS0ECkPgzAnJB8QpnZTtbi9wQKMAzZKEA5vExfK4q4mTXoLdo2H-PY6mNYhTTi75fa-WR8hTBscMgJ-4q_7XMRMcOAMO-h5ZMDCy0JLr-2QBrNSF4sY8JI9SugJg-YMfkIMSShBcL8j3L2GV6CZMl3S6RNri5DrqrsOAKTia8PcaB49Hs4AN9u6IuqGhvevaMfZuCuOQXtIlHXBD03Zo4tjj68fkQeu6hE_m95B8e_f26-n74uxz_eF0eVb4UjFdeOUYYx5lC67hqNG0voKVEVWulERdNqUxEjivwKlVwyR6IduWgcyg1-KQvNj1vYljXjVNtg_JY9e5Acd1skoyo5gwd4Ks5ACaiwye7EAfx5QitvYmht7FrWVgbyO3t5Hbf5Fnx7O59XrVY7Pn54yz_nzWXfI5tegGH9Ie01WV71MZe7XDNqHD7V1T7fLjef3fEsXOHdKEf_ZuF6-tVEJV9sdFbetzdfHm5ydha_EX2a6o4g</recordid><startdate>198506</startdate><enddate>198506</enddate><creator>Toriello, Helga V.</creator><creator>Bauserman, Steven C.</creator><creator>Higgins, James V.</creator><creator>Opitz, John M.</creator><creator>Reynolds, James F.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>198506</creationdate><title>Sibs with the fetal akinesia sequence, fetal edema, and malformations: A new syndrome?</title><author>Toriello, Helga V. ; Bauserman, Steven C. ; Higgins, James V. ; Opitz, John M. ; Reynolds, James F.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4718-c7a111ce6f0ad2e8e9fc50b935e9f76e84d499602250a7bd16ec36ff106fc5c83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1985</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Aortic Coarctation - genetics</topic><topic>arthrogryposis</topic><topic>autosomal recessive inheritance</topic><topic>Biological and medical sciences</topic><topic>Complex syndromes</topic><topic>Edema - genetics</topic><topic>Female</topic><topic>fetal akinesia</topic><topic>Fetal Diseases - genetics</topic><topic>Fetal Movement</topic><topic>Fingers - abnormalities</topic><topic>Genes, Recessive</topic><topic>heterogeneity</topic><topic>Humans</topic><topic>hydrops fetalis</topic><topic>Infant, Newborn</topic><topic>joint contractures</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>multiple anomalies</topic><topic>Pena-Shokeir I syndrome</topic><topic>Phenotype</topic><topic>polyhydramnios</topic><topic>Pregnancy</topic><topic>Syndrome</topic><topic>Thyroid Gland - abnormalities</topic><toplevel>online_resources</toplevel><creatorcontrib>Toriello, Helga V.</creatorcontrib><creatorcontrib>Bauserman, Steven C.</creatorcontrib><creatorcontrib>Higgins, James V.</creatorcontrib><creatorcontrib>Opitz, John M.</creatorcontrib><creatorcontrib>Reynolds, James F.</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>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Toriello, Helga V.</au><au>Bauserman, Steven C.</au><au>Higgins, James V.</au><au>Opitz, John M.</au><au>Reynolds, James F.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Sibs with the fetal akinesia sequence, fetal edema, and malformations: A new syndrome?</atitle><jtitle>American journal of medical genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1985-06</date><risdate>1985</risdate><volume>21</volume><issue>2</issue><spage>271</spage><epage>277</epage><pages>271-277</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>Pena and Shokeir [J Pediatr 85:373–375. 1974] first described a syndrome characterized by multiple ankyloses, camptodactyly, facial anomalies, and pulmonary hypoplasia, which was later termed Pena‐Shokeir I syndrome. Recent evidence suggests that a more accurate designation for this condition is the fetal akinesia sequence, which is almost certainly a heterogeneous entity. We describe sibs who were diagnosed as having Pena‐Shokeir I syndrome but who did not have the muscular or anterior horn cell changes characteristic of other infants with the fetal akinesia sequence. In addition, both sibs had fetal edema, the first sib had coarctation of the aorta, and the second had polydactyly and thyroid hypoplasia. We suggest that this case provides further evidence for heterogeneity in the fetal akinesia sequence and may represent a provisionally unique syndrome.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>4040328</pmid><doi>10.1002/ajmg.1320210208</doi><tpages>7</tpages></addata></record> |
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| subjects | Abnormalities, Multiple - genetics Aortic Coarctation - genetics arthrogryposis autosomal recessive inheritance Biological and medical sciences Complex syndromes Edema - genetics Female fetal akinesia Fetal Diseases - genetics Fetal Movement Fingers - abnormalities Genes, Recessive heterogeneity Humans hydrops fetalis Infant, Newborn joint contractures Medical genetics Medical sciences multiple anomalies Pena-Shokeir I syndrome Phenotype polyhydramnios Pregnancy Syndrome Thyroid Gland - abnormalities |
| title | Sibs with the fetal akinesia sequence, fetal edema, and malformations: A new syndrome? |
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