Skeletal findings in Marinesco-Sjögren syndrome
To describe the appearance and frequency of skeletal abnormalities associated with the Marinesco-Sjögren syndrome of cerebellar ataxia, congenital cataracts, mental and physical retardation and myopathy. Seventeen individuals affected with the disorder, of common ancestry and marked consanguinity, w...
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| Veröffentlicht in: | Skeletal radiology 1996-07, Vol.25 (5), p.461-465 |
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| container_title | Skeletal radiology |
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| creator | BROGLON, B. G SNOW, R. D WILLIAMS, J. P |
| description | To describe the appearance and frequency of skeletal abnormalities associated with the Marinesco-Sjögren syndrome of cerebellar ataxia, congenital cataracts, mental and physical retardation and myopathy.
Seventeen individuals affected with the disorder, of common ancestry and marked consanguinity, were found in an isolated area in southwest Alabama; 11 were available for radiologic examination of parts of the skeleton. The range and frequency of skeletal abnormalities thus demonstrated were tabulated.
A constellation of cranial and extracranial skeletal abnormalities-including a small posterior fossa, spinal abnormalities, gracile bones, elbow and hip valgus and asymmetric metacarpal and metatarsal shortening- can lead the radiologist or orthopaedist to suggest the diagnosis, especially if appropriate neurological/neuroradiological findings also are present. |
| doi_str_mv | 10.1007/s002560050115 |
| format | Article |
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Seventeen individuals affected with the disorder, of common ancestry and marked consanguinity, were found in an isolated area in southwest Alabama; 11 were available for radiologic examination of parts of the skeleton. The range and frequency of skeletal abnormalities thus demonstrated were tabulated.
A constellation of cranial and extracranial skeletal abnormalities-including a small posterior fossa, spinal abnormalities, gracile bones, elbow and hip valgus and asymmetric metacarpal and metatarsal shortening- can lead the radiologist or orthopaedist to suggest the diagnosis, especially if appropriate neurological/neuroradiological findings also are present.</description><identifier>ISSN: 0364-2348</identifier><identifier>EISSN: 1432-2161</identifier><identifier>DOI: 10.1007/s002560050115</identifier><identifier>PMID: 8837278</identifier><identifier>CODEN: SKRADI</identifier><language>eng</language><publisher>Berlin: Springer</publisher><subject>Biological and medical sciences ; Bone and Bones - diagnostic imaging ; Consanguinity ; Humans ; Investigative techniques, diagnostic techniques (general aspects) ; Medical sciences ; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques ; Radiography ; Spinocerebellar Degenerations - diagnostic imaging ; Spinocerebellar Degenerations - genetics ; Urinary system</subject><ispartof>Skeletal radiology, 1996-07, Vol.25 (5), p.461-465</ispartof><rights>1996 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c317t-de3962477026fdc3bff8d80bfa436b2be5762ce8f1a4b59cee850586405cfd763</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27903,27904</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3133958$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8837278$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>BROGLON, B. G</creatorcontrib><creatorcontrib>SNOW, R. D</creatorcontrib><creatorcontrib>WILLIAMS, J. P</creatorcontrib><title>Skeletal findings in Marinesco-Sjögren syndrome</title><title>Skeletal radiology</title><addtitle>Skeletal Radiol</addtitle><description>To describe the appearance and frequency of skeletal abnormalities associated with the Marinesco-Sjögren syndrome of cerebellar ataxia, congenital cataracts, mental and physical retardation and myopathy.
Seventeen individuals affected with the disorder, of common ancestry and marked consanguinity, were found in an isolated area in southwest Alabama; 11 were available for radiologic examination of parts of the skeleton. The range and frequency of skeletal abnormalities thus demonstrated were tabulated.
A constellation of cranial and extracranial skeletal abnormalities-including a small posterior fossa, spinal abnormalities, gracile bones, elbow and hip valgus and asymmetric metacarpal and metatarsal shortening- can lead the radiologist or orthopaedist to suggest the diagnosis, especially if appropriate neurological/neuroradiological findings also are present.</description><subject>Biological and medical sciences</subject><subject>Bone and Bones - diagnostic imaging</subject><subject>Consanguinity</subject><subject>Humans</subject><subject>Investigative techniques, diagnostic techniques (general aspects)</subject><subject>Medical sciences</subject><subject>Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques</subject><subject>Radiography</subject><subject>Spinocerebellar Degenerations - diagnostic imaging</subject><subject>Spinocerebellar Degenerations - genetics</subject><subject>Urinary system</subject><issn>0364-2348</issn><issn>1432-2161</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1996</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkLtOwzAYhS0EKqUwMiJlQGyB33Z86YgqblIRQ2GOHPt3lZI4xW6HvhgvwIsR1KgS0xnOpyOdj5BLCrcUQN0lACYkgABKxREZ04KznFFJj8kYuCxyxgt9Ss5SWgFQpYQckZHWXDGlxwQWn9jgxjSZr4OrwzJldcheTawDJtvli9XP9zJiyNIuuNi1eE5OvGkSXgw5IR-PD--z53z-9vQyu5_nllO1yR3yqWSFUsCkd5ZX3munofKm4LJiFQolmUXtqSkqMbWIWoDQsgBhvVOST8jNfncdu68tpk3Z1sli05iA3TaVqn-guFA9mO9BG7uUIvpyHevWxF1JofwzVP4z1PNXw_C2atEd6EFJ318PvUnWND6aYOt0wDjlfCo0_wVk220r</recordid><startdate>19960701</startdate><enddate>19960701</enddate><creator>BROGLON, B. G</creator><creator>SNOW, R. D</creator><creator>WILLIAMS, J. P</creator><general>Springer</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>7X8</scope></search><sort><creationdate>19960701</creationdate><title>Skeletal findings in Marinesco-Sjögren syndrome</title><author>BROGLON, B. G ; SNOW, R. D ; WILLIAMS, J. P</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c317t-de3962477026fdc3bff8d80bfa436b2be5762ce8f1a4b59cee850586405cfd763</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1996</creationdate><topic>Biological and medical sciences</topic><topic>Bone and Bones - diagnostic imaging</topic><topic>Consanguinity</topic><topic>Humans</topic><topic>Investigative techniques, diagnostic techniques (general aspects)</topic><topic>Medical sciences</topic><topic>Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques</topic><topic>Radiography</topic><topic>Spinocerebellar Degenerations - diagnostic imaging</topic><topic>Spinocerebellar Degenerations - genetics</topic><topic>Urinary system</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>BROGLON, B. G</creatorcontrib><creatorcontrib>SNOW, R. D</creatorcontrib><creatorcontrib>WILLIAMS, J. P</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>MEDLINE - Academic</collection><jtitle>Skeletal radiology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>BROGLON, B. G</au><au>SNOW, R. D</au><au>WILLIAMS, J. P</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Skeletal findings in Marinesco-Sjögren syndrome</atitle><jtitle>Skeletal radiology</jtitle><addtitle>Skeletal Radiol</addtitle><date>1996-07-01</date><risdate>1996</risdate><volume>25</volume><issue>5</issue><spage>461</spage><epage>465</epage><pages>461-465</pages><issn>0364-2348</issn><eissn>1432-2161</eissn><coden>SKRADI</coden><abstract>To describe the appearance and frequency of skeletal abnormalities associated with the Marinesco-Sjögren syndrome of cerebellar ataxia, congenital cataracts, mental and physical retardation and myopathy.
Seventeen individuals affected with the disorder, of common ancestry and marked consanguinity, were found in an isolated area in southwest Alabama; 11 were available for radiologic examination of parts of the skeleton. The range and frequency of skeletal abnormalities thus demonstrated were tabulated.
A constellation of cranial and extracranial skeletal abnormalities-including a small posterior fossa, spinal abnormalities, gracile bones, elbow and hip valgus and asymmetric metacarpal and metatarsal shortening- can lead the radiologist or orthopaedist to suggest the diagnosis, especially if appropriate neurological/neuroradiological findings also are present.</abstract><cop>Berlin</cop><pub>Springer</pub><pmid>8837278</pmid><doi>10.1007/s002560050115</doi><tpages>5</tpages></addata></record> |
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| ispartof | Skeletal radiology, 1996-07, Vol.25 (5), p.461-465 |
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| language | eng |
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| source | MEDLINE; Springer Nature - Complete Springer Journals |
| subjects | Biological and medical sciences Bone and Bones - diagnostic imaging Consanguinity Humans Investigative techniques, diagnostic techniques (general aspects) Medical sciences Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques Radiography Spinocerebellar Degenerations - diagnostic imaging Spinocerebellar Degenerations - genetics Urinary system |
| title | Skeletal findings in Marinesco-Sjögren syndrome |
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