Acromesomelic-spondyloepiphyseal dysplasia associated with congenital optic atrophy: report of family
We report a family with a unique combination of radiological manifestations of acromesomelic dysplasia and spondyloepiphyseal dysplasia in two members (a man and his daughter) associated with congenital optic atrophy in four generations. The inheritance pattern of this complex anomaly appeared to be...
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| Veröffentlicht in: | Pediatric radiology 1993-07, Vol.23 (4), p.321-324 |
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| container_title | Pediatric radiology |
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| creator | SENER, R. N USTUN, E. E OZKINAY, C MEMIS, A OYAR, O |
| description | We report a family with a unique combination of radiological manifestations of acromesomelic dysplasia and spondyloepiphyseal dysplasia in two members (a man and his daughter) associated with congenital optic atrophy in four generations. The inheritance pattern of this complex anomaly appeared to be autosomal dominant. |
| doi_str_mv | 10.1007/BF02010928 |
| format | Article |
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N ; USTUN, E. E ; OZKINAY, C ; MEMIS, A ; OYAR, O</creator><creatorcontrib>SENER, R. N ; USTUN, E. E ; OZKINAY, C ; MEMIS, A ; OYAR, O</creatorcontrib><description>We report a family with a unique combination of radiological manifestations of acromesomelic dysplasia and spondyloepiphyseal dysplasia in two members (a man and his daughter) associated with congenital optic atrophy in four generations. The inheritance pattern of this complex anomaly appeared to be autosomal dominant.</description><identifier>ISSN: 0301-0449</identifier><identifier>EISSN: 1432-1998</identifier><identifier>DOI: 10.1007/BF02010928</identifier><identifier>PMID: 8414767</identifier><identifier>CODEN: PDRYA5</identifier><language>eng</language><publisher>Berlin: Springer</publisher><subject>Adult ; Biological and medical sciences ; Bone and Bones - diagnostic imaging ; Child, Preschool ; Female ; Humans ; Investigative techniques, diagnostic techniques (general aspects) ; Male ; Medical sciences ; Optic Atrophies, Hereditary - complications ; Optic Atrophies, Hereditary - diagnostic imaging ; Optic Atrophies, Hereditary - genetics ; Osteoarticular system. Muscles ; Osteochondrodysplasias - complications ; Osteochondrodysplasias - diagnostic imaging ; Osteochondrodysplasias - genetics ; Pedigree ; Radiodiagnosis. Nmr imagery. 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E</creatorcontrib><creatorcontrib>OZKINAY, C</creatorcontrib><creatorcontrib>MEMIS, A</creatorcontrib><creatorcontrib>OYAR, O</creatorcontrib><title>Acromesomelic-spondyloepiphyseal dysplasia associated with congenital optic atrophy: report of family</title><title>Pediatric radiology</title><addtitle>Pediatr Radiol</addtitle><description>We report a family with a unique combination of radiological manifestations of acromesomelic dysplasia and spondyloepiphyseal dysplasia in two members (a man and his daughter) associated with congenital optic atrophy in four generations. The inheritance pattern of this complex anomaly appeared to be autosomal dominant.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Bone and Bones - diagnostic imaging</subject><subject>Child, Preschool</subject><subject>Female</subject><subject>Humans</subject><subject>Investigative techniques, diagnostic techniques (general aspects)</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Optic Atrophies, Hereditary - complications</subject><subject>Optic Atrophies, Hereditary - diagnostic imaging</subject><subject>Optic Atrophies, Hereditary - genetics</subject><subject>Osteoarticular system. Muscles</subject><subject>Osteochondrodysplasias - complications</subject><subject>Osteochondrodysplasias - diagnostic imaging</subject><subject>Osteochondrodysplasias - genetics</subject><subject>Pedigree</subject><subject>Radiodiagnosis. Nmr imagery. 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Muscles</topic><topic>Osteochondrodysplasias - complications</topic><topic>Osteochondrodysplasias - diagnostic imaging</topic><topic>Osteochondrodysplasias - genetics</topic><topic>Pedigree</topic><topic>Radiodiagnosis. Nmr imagery. Nmr spectrometry</topic><topic>Radiography</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>SENER, R. N</creatorcontrib><creatorcontrib>USTUN, E. E</creatorcontrib><creatorcontrib>OZKINAY, C</creatorcontrib><creatorcontrib>MEMIS, A</creatorcontrib><creatorcontrib>OYAR, O</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>Pediatric radiology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>SENER, R. N</au><au>USTUN, E. E</au><au>OZKINAY, C</au><au>MEMIS, A</au><au>OYAR, O</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Acromesomelic-spondyloepiphyseal dysplasia associated with congenital optic atrophy: report of family</atitle><jtitle>Pediatric radiology</jtitle><addtitle>Pediatr Radiol</addtitle><date>1993-07-01</date><risdate>1993</risdate><volume>23</volume><issue>4</issue><spage>321</spage><epage>324</epage><pages>321-324</pages><issn>0301-0449</issn><eissn>1432-1998</eissn><coden>PDRYA5</coden><abstract>We report a family with a unique combination of radiological manifestations of acromesomelic dysplasia and spondyloepiphyseal dysplasia in two members (a man and his daughter) associated with congenital optic atrophy in four generations. The inheritance pattern of this complex anomaly appeared to be autosomal dominant.</abstract><cop>Berlin</cop><pub>Springer</pub><pmid>8414767</pmid><doi>10.1007/BF02010928</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0301-0449 |
| ispartof | Pediatric radiology, 1993-07, Vol.23 (4), p.321-324 |
| issn | 0301-0449 1432-1998 |
| language | eng |
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| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Adult Biological and medical sciences Bone and Bones - diagnostic imaging Child, Preschool Female Humans Investigative techniques, diagnostic techniques (general aspects) Male Medical sciences Optic Atrophies, Hereditary - complications Optic Atrophies, Hereditary - diagnostic imaging Optic Atrophies, Hereditary - genetics Osteoarticular system. Muscles Osteochondrodysplasias - complications Osteochondrodysplasias - diagnostic imaging Osteochondrodysplasias - genetics Pedigree Radiodiagnosis. Nmr imagery. Nmr spectrometry Radiography |
| title | Acromesomelic-spondyloepiphyseal dysplasia associated with congenital optic atrophy: report of family |
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