Sedaghatian spondylometaphyseal dysplasia in two siblings
Sedaghatian type spondylometaphyseal dysplasia (SSMD) is a rare skeletal dysplasia with only 24 reported cases to date. Despite the limited literature available, evidence suggests this is a multi-system disorder, with neurological and cardiovascular abnormalities reported in addition to the skeletal...
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| Veröffentlicht in: | European journal of medical genetics 2022-08, Vol.65 (8), p.104541-104541, Article 104541 |
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| container_title | European journal of medical genetics |
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| creator | Peshimam, Niha Farah, Hani Caswell, Richard Ellard, Sian Jan, Wajanat Calder, Alistair D. Cobben, Jan Kariholu, Ujwal Leitch, Harry G. |
| description | Sedaghatian type spondylometaphyseal dysplasia (SSMD) is a rare skeletal dysplasia with only 24 reported cases to date. Despite the limited literature available, evidence suggests this is a multi-system disorder, with neurological and cardiovascular abnormalities reported in addition to the skeletal features. We report a new family with two affected siblings and detailed phenotypic description of the affected proband. Diagnosis in the neonatal period led to retrospective genetic diagnosis of a previous affected pregnancy that was terminated due to severe ventriculomegaly. We suggest that a diagnosis of SSMD should be considered when shortened long bones are found in combination with significant brain abnormalities. |
| doi_str_mv | 10.1016/j.ejmg.2022.104541 |
| format | Article |
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Despite the limited literature available, evidence suggests this is a multi-system disorder, with neurological and cardiovascular abnormalities reported in addition to the skeletal features. We report a new family with two affected siblings and detailed phenotypic description of the affected proband. Diagnosis in the neonatal period led to retrospective genetic diagnosis of a previous affected pregnancy that was terminated due to severe ventriculomegaly. We suggest that a diagnosis of SSMD should be considered when shortened long bones are found in combination with significant brain abnormalities.</description><identifier>ISSN: 1769-7212</identifier><identifier>EISSN: 1878-0849</identifier><identifier>DOI: 10.1016/j.ejmg.2022.104541</identifier><identifier>PMID: 35718083</identifier><language>eng</language><publisher>Netherlands: Elsevier Masson SAS</publisher><subject>Humans ; Infant, Newborn ; Osteochondrodysplasias - diagnostic imaging ; Osteochondrodysplasias - genetics ; Radiography ; Retrospective Studies ; Sedaghatian type ; Siblings ; Skeletal dysplasia ; Spondylometaphyseal dysplasia</subject><ispartof>European journal of medical genetics, 2022-08, Vol.65 (8), p.104541-104541, Article 104541</ispartof><rights>2022</rights><rights>Copyright © 2022 The Authors. Published by Elsevier Masson SAS.. 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Despite the limited literature available, evidence suggests this is a multi-system disorder, with neurological and cardiovascular abnormalities reported in addition to the skeletal features. We report a new family with two affected siblings and detailed phenotypic description of the affected proband. Diagnosis in the neonatal period led to retrospective genetic diagnosis of a previous affected pregnancy that was terminated due to severe ventriculomegaly. We suggest that a diagnosis of SSMD should be considered when shortened long bones are found in combination with significant brain abnormalities.</description><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Osteochondrodysplasias - diagnostic imaging</subject><subject>Osteochondrodysplasias - genetics</subject><subject>Radiography</subject><subject>Retrospective Studies</subject><subject>Sedaghatian type</subject><subject>Siblings</subject><subject>Skeletal dysplasia</subject><subject>Spondylometaphyseal dysplasia</subject><issn>1769-7212</issn><issn>1878-0849</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE1LxDAQhoMorq7-AQ_So5euSZomKXiRxS9Y8KCewzSZ7mbpl01X6b-3S1ePnmYYnveFeQi5YnTBKJO32wVuq_WCU87Hg0gFOyJnTCsdUy2y43FXMosVZ3xGzkPYUppoxrNTMktSxTTVyRnJ3tDBegO9hzoKbVO7oWwq7KHdDAGhjNwQ2hKCh8jXUf_dRMHnpa_X4YKcFFAGvDzMOfl4fHhfPser16eX5f0qtoLSPtbCYuaw4JrpXFNAQKULoUFAAkw6lVChrMxyxlNMJWQUtUXuEsdULjhP5uRm6m275nOHoTeVDxbLEmpsdsFwqbQSkkk5onxCbdeE0GFh2s5X0A2GUbNXZrZmr8zslZlJ2Ri6PvTv8grdX-TX0QjcTQCOX3557EywHmuLzndoe-Ma_1__D1-hfOM</recordid><startdate>202208</startdate><enddate>202208</enddate><creator>Peshimam, Niha</creator><creator>Farah, Hani</creator><creator>Caswell, Richard</creator><creator>Ellard, Sian</creator><creator>Jan, Wajanat</creator><creator>Calder, Alistair D.</creator><creator>Cobben, Jan</creator><creator>Kariholu, Ujwal</creator><creator>Leitch, Harry G.</creator><general>Elsevier Masson SAS</general><scope>6I.</scope><scope>AAFTH</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><orcidid>https://orcid.org/0000-0002-3486-8962</orcidid></search><sort><creationdate>202208</creationdate><title>Sedaghatian spondylometaphyseal dysplasia in two siblings</title><author>Peshimam, Niha ; Farah, Hani ; Caswell, Richard ; Ellard, Sian ; Jan, Wajanat ; Calder, Alistair D. ; Cobben, Jan ; Kariholu, Ujwal ; Leitch, Harry G.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c400t-84ce9def2818b80aeae78f48a4a3a16d73047c69b125e56a90e8ce2d3d17b4223</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Osteochondrodysplasias - diagnostic imaging</topic><topic>Osteochondrodysplasias - genetics</topic><topic>Radiography</topic><topic>Retrospective Studies</topic><topic>Sedaghatian type</topic><topic>Siblings</topic><topic>Skeletal dysplasia</topic><topic>Spondylometaphyseal dysplasia</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Peshimam, Niha</creatorcontrib><creatorcontrib>Farah, Hani</creatorcontrib><creatorcontrib>Caswell, Richard</creatorcontrib><creatorcontrib>Ellard, Sian</creatorcontrib><creatorcontrib>Jan, Wajanat</creatorcontrib><creatorcontrib>Calder, Alistair D.</creatorcontrib><creatorcontrib>Cobben, Jan</creatorcontrib><creatorcontrib>Kariholu, Ujwal</creatorcontrib><creatorcontrib>Leitch, Harry G.</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</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>European journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Peshimam, Niha</au><au>Farah, Hani</au><au>Caswell, Richard</au><au>Ellard, Sian</au><au>Jan, Wajanat</au><au>Calder, Alistair D.</au><au>Cobben, Jan</au><au>Kariholu, Ujwal</au><au>Leitch, Harry G.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Sedaghatian spondylometaphyseal dysplasia in two siblings</atitle><jtitle>European journal of medical genetics</jtitle><addtitle>Eur J Med Genet</addtitle><date>2022-08</date><risdate>2022</risdate><volume>65</volume><issue>8</issue><spage>104541</spage><epage>104541</epage><pages>104541-104541</pages><artnum>104541</artnum><issn>1769-7212</issn><eissn>1878-0849</eissn><abstract>Sedaghatian type spondylometaphyseal dysplasia (SSMD) is a rare skeletal dysplasia with only 24 reported cases to date. 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| identifier | ISSN: 1769-7212 |
| ispartof | European journal of medical genetics, 2022-08, Vol.65 (8), p.104541-104541, Article 104541 |
| issn | 1769-7212 1878-0849 |
| language | eng |
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| source | MEDLINE; Access via ScienceDirect (Elsevier) |
| subjects | Humans Infant, Newborn Osteochondrodysplasias - diagnostic imaging Osteochondrodysplasias - genetics Radiography Retrospective Studies Sedaghatian type Siblings Skeletal dysplasia Spondylometaphyseal dysplasia |
| title | Sedaghatian spondylometaphyseal dysplasia in two siblings |
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