Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: Is Carnevale syndrome a separate entity?
A group of syndromes, consisting of Malpuech syndrome, Michels syndrome, Carnevale syndrome, OSA syndrome, and Mingarelli syndrome share the combination of symptoms of highly arched eyebrows, ptosis, and hypertelorism, and vary in other symptoms such as asymmetry of the skull, eyelid, and anterior c...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2007-02, Vol.143A (4), p.349-354 |
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| container_title | American journal of medical genetics. Part A |
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| creator | Al Kaissi, Ali Klaushofer, Klaus Safi, Hatem Chehida, Farid Ben Ghachem, Maher Ben Chaabounni, Myriam Hennekam, Raoul C.M. |
| description | A group of syndromes, consisting of Malpuech syndrome, Michels syndrome, Carnevale syndrome, OSA syndrome, and Mingarelli syndrome share the combination of symptoms of highly arched eyebrows, ptosis, and hypertelorism, and vary in other symptoms such as asymmetry of the skull, eyelid, and anterior chamber anomalies, clefting of lip and palate, umbilical anomalies, and growth and cognitive development. It has been suggested that they are in fact part of the same entity. Here, we describe a brother and sister with the same constellation of symptoms, and compare these with the various entities. We conclude that the present patients resemble most patients with Carnevale and Mingarelli syndrome, and the case reported by Guion‐Almeida, and that these patients form together most probably the same entity. We suggest the name Carnevale syndrome as this author described this combination of symptoms for the first time. Malpuech and Michels syndromes are probably separate entities, although they may still be allelic. Pattern of inheritance of Carnevale syndrome is most likely autosomal recessive. © 2007 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.a.31610 |
| format | Article |
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It has been suggested that they are in fact part of the same entity. Here, we describe a brother and sister with the same constellation of symptoms, and compare these with the various entities. We conclude that the present patients resemble most patients with Carnevale and Mingarelli syndrome, and the case reported by Guion‐Almeida, and that these patients form together most probably the same entity. We suggest the name Carnevale syndrome as this author described this combination of symptoms for the first time. Malpuech and Michels syndromes are probably separate entities, although they may still be allelic. Pattern of inheritance of Carnevale syndrome is most likely autosomal recessive. © 2007 Wiley‐Liss, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.31610</identifier><identifier>PMID: 17236195</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Abnormalities, Multiple - diagnosis ; Abnormalities, Multiple - pathology ; autosomal recessive ; Biological and medical sciences ; Blepharoptosis - pathology ; Bone Diseases - diagnosis ; Carnevale syndrome ; Child, Preschool ; cleft lip ; Cleft Lip - pathology ; cleft palate ; Cleft Palate - pathology ; Craniofacial Abnormalities - diagnosis ; Craniofacial Abnormalities - pathology ; Craniosynostoses - diagnosis ; Craniosynostoses - diagnostic imaging ; craniosynostosis ; Diseases of the osteoarticular system ; Eyelids - abnormalities ; Face - abnormalities ; Facial bones, jaws, teeth, parodontium: diseases, semeiology ; Female ; Genes, Recessive ; Humans ; hypertelorism ; Hypertelorism - pathology ; Male ; Malformations and congenital and or hereditary diseases involving bones. Joint deformations ; Malpuech syndrome ; Medical genetics ; Medical sciences ; Michels syndrome ; Non tumoral diseases ; Nose - abnormalities ; Otorhinolaryngology. Stomatology ; ptosis ; Radiography ; radioulnar synostosis ; Skull - abnormalities ; Syndrome ; torticollis ; Torticollis - pathology ; Urogenital Abnormalities - diagnosis ; Urogenital Abnormalities - pathology</subject><ispartof>American journal of medical genetics. Part A, 2007-02, Vol.143A (4), p.349-354</ispartof><rights>Copyright © 2007 Wiley‐Liss, Inc.</rights><rights>2007 INIST-CNRS</rights><rights>(c) 2007 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3940-49fd05a77f1c998d15348726ec4cd65c211279b9cb5c5d7f10967e14985107f63</citedby><cites>FETCH-LOGICAL-c3940-49fd05a77f1c998d15348726ec4cd65c211279b9cb5c5d7f10967e14985107f63</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%2Fajmg.a.31610$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fajmg.a.31610$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1416,27922,27923,45572,45573</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18539380$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17236195$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Al Kaissi, Ali</creatorcontrib><creatorcontrib>Klaushofer, Klaus</creatorcontrib><creatorcontrib>Safi, Hatem</creatorcontrib><creatorcontrib>Chehida, Farid Ben</creatorcontrib><creatorcontrib>Ghachem, Maher Ben</creatorcontrib><creatorcontrib>Chaabounni, Myriam</creatorcontrib><creatorcontrib>Hennekam, Raoul C.M.</creatorcontrib><title>Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: Is Carnevale syndrome a separate entity?</title><title>American journal of medical genetics. Part A</title><addtitle>Am J Med Genet A</addtitle><description>A group of syndromes, consisting of Malpuech syndrome, Michels syndrome, Carnevale syndrome, OSA syndrome, and Mingarelli syndrome share the combination of symptoms of highly arched eyebrows, ptosis, and hypertelorism, and vary in other symptoms such as asymmetry of the skull, eyelid, and anterior chamber anomalies, clefting of lip and palate, umbilical anomalies, and growth and cognitive development. It has been suggested that they are in fact part of the same entity. Here, we describe a brother and sister with the same constellation of symptoms, and compare these with the various entities. We conclude that the present patients resemble most patients with Carnevale and Mingarelli syndrome, and the case reported by Guion‐Almeida, and that these patients form together most probably the same entity. We suggest the name Carnevale syndrome as this author described this combination of symptoms for the first time. Malpuech and Michels syndromes are probably separate entities, although they may still be allelic. Pattern of inheritance of Carnevale syndrome is most likely autosomal recessive. © 2007 Wiley‐Liss, Inc.</description><subject>Abnormalities, Multiple - diagnosis</subject><subject>Abnormalities, Multiple - pathology</subject><subject>autosomal recessive</subject><subject>Biological and medical sciences</subject><subject>Blepharoptosis - pathology</subject><subject>Bone Diseases - diagnosis</subject><subject>Carnevale syndrome</subject><subject>Child, Preschool</subject><subject>cleft lip</subject><subject>Cleft Lip - pathology</subject><subject>cleft palate</subject><subject>Cleft Palate - pathology</subject><subject>Craniofacial Abnormalities - diagnosis</subject><subject>Craniofacial Abnormalities - pathology</subject><subject>Craniosynostoses - diagnosis</subject><subject>Craniosynostoses - diagnostic imaging</subject><subject>craniosynostosis</subject><subject>Diseases of the osteoarticular system</subject><subject>Eyelids - abnormalities</subject><subject>Face - abnormalities</subject><subject>Facial bones, jaws, teeth, parodontium: diseases, semeiology</subject><subject>Female</subject><subject>Genes, Recessive</subject><subject>Humans</subject><subject>hypertelorism</subject><subject>Hypertelorism - pathology</subject><subject>Male</subject><subject>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</subject><subject>Malpuech syndrome</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Michels syndrome</subject><subject>Non tumoral diseases</subject><subject>Nose - abnormalities</subject><subject>Otorhinolaryngology. Stomatology</subject><subject>ptosis</subject><subject>Radiography</subject><subject>radioulnar synostosis</subject><subject>Skull - abnormalities</subject><subject>Syndrome</subject><subject>torticollis</subject><subject>Torticollis - pathology</subject><subject>Urogenital Abnormalities - diagnosis</subject><subject>Urogenital Abnormalities - pathology</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0U1v1DAQBuAIUdFSuHFGvsApu9hxnMRc0GoFpaiIC5yjiTPZuthO8CSt8oP4n2S7q5YTnPyhR-9I8ybJK8HXgvPsHdz43RrWUhSCP0nOhFLZKq-kfPpwz9Rp8pzohnPJVVk8S05FmclCaHWW_N7Q7D2O0RpwjH5OzqVsGHuylLLrecA4ouujJb887e6aBaAFNtG2O0yZcdiNNuxSNvnGuvsQCL0HZ3EJgNAumehw_Puf2cDINvSeXRLbQgx4Cw4ZzaGNvUcGjHCACCMyDKMd5w8vkpMOHOHL43me_Pj08fv28-rq28XldnO1MlLnfJXrruUKyrITRuuqFUrmVZkVaHLTFspkQmSlbrRplFHtorguShS5rpTgZVfI8-TtIXeI_a8Jaay9JYPOQcB-orqodMFV9n-YcS1EKcQC0wM0sSeK2NVDtB7iXAte7_ur9_3VUN_3t_DXx9yp8dg-4mNhC3hzBEDLsrsIwVh6dJWSWlb7IHlwd9bh_M-h9ebL14vD-D_bG7Vf</recordid><startdate>20070215</startdate><enddate>20070215</enddate><creator>Al Kaissi, Ali</creator><creator>Klaushofer, Klaus</creator><creator>Safi, Hatem</creator><creator>Chehida, Farid Ben</creator><creator>Ghachem, Maher Ben</creator><creator>Chaabounni, Myriam</creator><creator>Hennekam, Raoul C.M.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><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>7QP</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20070215</creationdate><title>Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: Is Carnevale syndrome a separate entity?</title><author>Al Kaissi, Ali ; Klaushofer, Klaus ; Safi, Hatem ; Chehida, Farid Ben ; Ghachem, Maher Ben ; Chaabounni, Myriam ; Hennekam, Raoul C.M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3940-49fd05a77f1c998d15348726ec4cd65c211279b9cb5c5d7f10967e14985107f63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Abnormalities, Multiple - diagnosis</topic><topic>Abnormalities, Multiple - pathology</topic><topic>autosomal recessive</topic><topic>Biological and medical sciences</topic><topic>Blepharoptosis - pathology</topic><topic>Bone Diseases - diagnosis</topic><topic>Carnevale syndrome</topic><topic>Child, Preschool</topic><topic>cleft lip</topic><topic>Cleft Lip - pathology</topic><topic>cleft palate</topic><topic>Cleft Palate - pathology</topic><topic>Craniofacial Abnormalities - diagnosis</topic><topic>Craniofacial Abnormalities - pathology</topic><topic>Craniosynostoses - diagnosis</topic><topic>Craniosynostoses - diagnostic imaging</topic><topic>craniosynostosis</topic><topic>Diseases of the osteoarticular system</topic><topic>Eyelids - abnormalities</topic><topic>Face - abnormalities</topic><topic>Facial bones, jaws, teeth, parodontium: diseases, semeiology</topic><topic>Female</topic><topic>Genes, Recessive</topic><topic>Humans</topic><topic>hypertelorism</topic><topic>Hypertelorism - pathology</topic><topic>Male</topic><topic>Malformations and congenital and or hereditary diseases involving bones. Joint deformations</topic><topic>Malpuech syndrome</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Michels syndrome</topic><topic>Non tumoral diseases</topic><topic>Nose - abnormalities</topic><topic>Otorhinolaryngology. Stomatology</topic><topic>ptosis</topic><topic>Radiography</topic><topic>radioulnar synostosis</topic><topic>Skull - abnormalities</topic><topic>Syndrome</topic><topic>torticollis</topic><topic>Torticollis - pathology</topic><topic>Urogenital Abnormalities - diagnosis</topic><topic>Urogenital Abnormalities - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Al Kaissi, Ali</creatorcontrib><creatorcontrib>Klaushofer, Klaus</creatorcontrib><creatorcontrib>Safi, Hatem</creatorcontrib><creatorcontrib>Chehida, Farid Ben</creatorcontrib><creatorcontrib>Ghachem, Maher Ben</creatorcontrib><creatorcontrib>Chaabounni, Myriam</creatorcontrib><creatorcontrib>Hennekam, Raoul C.M.</creatorcontrib><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>Calcium & Calcified Tissue Abstracts</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. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Al Kaissi, Ali</au><au>Klaushofer, Klaus</au><au>Safi, Hatem</au><au>Chehida, Farid Ben</au><au>Ghachem, Maher Ben</au><au>Chaabounni, Myriam</au><au>Hennekam, Raoul C.M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: Is Carnevale syndrome a separate entity?</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am J Med Genet A</addtitle><date>2007-02-15</date><risdate>2007</risdate><volume>143A</volume><issue>4</issue><spage>349</spage><epage>354</epage><pages>349-354</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><abstract>A group of syndromes, consisting of Malpuech syndrome, Michels syndrome, Carnevale syndrome, OSA syndrome, and Mingarelli syndrome share the combination of symptoms of highly arched eyebrows, ptosis, and hypertelorism, and vary in other symptoms such as asymmetry of the skull, eyelid, and anterior chamber anomalies, clefting of lip and palate, umbilical anomalies, and growth and cognitive development. It has been suggested that they are in fact part of the same entity. Here, we describe a brother and sister with the same constellation of symptoms, and compare these with the various entities. We conclude that the present patients resemble most patients with Carnevale and Mingarelli syndrome, and the case reported by Guion‐Almeida, and that these patients form together most probably the same entity. We suggest the name Carnevale syndrome as this author described this combination of symptoms for the first time. Malpuech and Michels syndromes are probably separate entities, although they may still be allelic. Pattern of inheritance of Carnevale syndrome is most likely autosomal recessive. © 2007 Wiley‐Liss, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>17236195</pmid><doi>10.1002/ajmg.a.31610</doi><tpages>6</tpages></addata></record> |
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| ispartof | American journal of medical genetics. Part A, 2007-02, Vol.143A (4), p.349-354 |
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| subjects | Abnormalities, Multiple - diagnosis Abnormalities, Multiple - pathology autosomal recessive Biological and medical sciences Blepharoptosis - pathology Bone Diseases - diagnosis Carnevale syndrome Child, Preschool cleft lip Cleft Lip - pathology cleft palate Cleft Palate - pathology Craniofacial Abnormalities - diagnosis Craniofacial Abnormalities - pathology Craniosynostoses - diagnosis Craniosynostoses - diagnostic imaging craniosynostosis Diseases of the osteoarticular system Eyelids - abnormalities Face - abnormalities Facial bones, jaws, teeth, parodontium: diseases, semeiology Female Genes, Recessive Humans hypertelorism Hypertelorism - pathology Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Malpuech syndrome Medical genetics Medical sciences Michels syndrome Non tumoral diseases Nose - abnormalities Otorhinolaryngology. Stomatology ptosis Radiography radioulnar synostosis Skull - abnormalities Syndrome torticollis Torticollis - pathology Urogenital Abnormalities - diagnosis Urogenital Abnormalities - pathology |
| title | Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: Is Carnevale syndrome a separate entity? |
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