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        "resumen" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">El s&#237;ndrome de Cohen es un trastorno autos&#243;mico recesivo que se caracteriza por la asociaci&#243;n de obesidad&#44; hipoton&#237;a&#44; retraso mental&#44; microcefalia&#44; dismorfia craneofacial t&#237;pica&#44; miop&#237;a y distrofia coriorretiniana&#46; Se ha localizado el locus para el s&#237;ndrome de Cohen en el cromosoma 8q 22 &#40;COH 1&#41;&#46; Desde su descripci&#243;n m&#225;s de cien pacientes han sido comunicados&#44; no presentando ninguno de ellos asociaci&#243;n con anillos vasculares&#46; Presentamos ocho casos pedi&#225;tricos diagnosticados en nuestro hospital&#44; la mayor serie publicada en Espa&#241;a&#44; de las cuales un 25&#37; se asociaron con anillos vasculares&#46;</p>"
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                    0 => array:2 [
                      "titulo" => "A new syndrome with hypotonia&#44; obesity&#44; mental deficiency&#44; and facial&#44; oral&#44; ocular and limb anomalies"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:3 [
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                            1 => "B&#46;D&#46; Hall"
                            2 => "D&#46;W&#46; Smith"
                          ]
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                    ]
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                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:6 [
                        "tituloSerie" => "J Pediatr"
                        "fecha" => "1973"
                        "volumen" => "83"
                        "paginaInicial" => "280"
                        "paginaFinal" => "284"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/4717588"
                            "web" => "Medline"
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            1 => array:3 [
              "identificador" => "bib0010"
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              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Confirmation of the Cohen syndrome"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:2 [
                            0 => "J&#46;C&#46; Carey"
                            1 => "B&#46;D&#46; Hall"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:6 [
                        "tituloSerie" => "J Pediatr"
                        "fecha" => "1978"
                        "volumen" => "93"
                        "paginaInicial" => "239"
                        "paginaFinal" => "244"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/671157"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            2 => array:3 [
              "identificador" => "bib0015"
              "etiqueta" => "3&#46;"
              "referencia" => array:1 [
                0 => array:1 [
                  "referenciaCompleta" => "Mc Kusick VA&#46; Mendelian inheritance in man &#40;7&#46;<span class="elsevierStyleSup">a</span> ed&#46;&#41;&#46; Baltimore y Londres&#58; The John Jopkins University Press&#44; 1986&#59; 897-898&#46;"
                ]
              ]
            ]
            3 => array:3 [
              "identificador" => "bib0020"
              "etiqueta" => "4&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Further delineation of the Cohen syndrome&#58; report on chorioretinal dystrophy&#44; leukopenia and consanguinity"
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                        0 => array:2 [
                          "etal" => false
                          "autores" => array:3 [
                            0 => "R&#46; Norio"
                            1 => "C&#46; Raitta"
                            2 => "E&#46; Lindahl"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:6 [
                        "tituloSerie" => "Clin Genet"
                        "fecha" => "1984"
                        "volumen" => "25"
                        "paginaInicial" => "1"
                        "paginaFinal" => "14"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/6705238"
                            "web" => "Medline"
                          ]
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                      ]
                    ]
                  ]
                ]
              ]
            ]
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              "identificador" => "bib0025"
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                    0 => array:2 [
                      "titulo" => "Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis"
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                            0 => "E&#46; Tahvanainen"
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                            2 => "E&#46; Karila"
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                    0 => array:2 [
                      "doi" => "10.1038/ng0694-201"
                      "Revista" => array:6 [
                        "tituloSerie" => "Nature Genetics"
                        "fecha" => "1994"
                        "volumen" => "7"
                        "paginaInicial" => "201"
                        "paginaFinal" => "204"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/7920642"
                            "web" => "Medline"
                          ]
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                      "titulo" => "The Cohen syndrome&#58; report of five new cases and review of the literature"
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                          "autores" => array:2 [
                            0 => "E&#46; Friedman"
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                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:6 [
                        "tituloSerie" => "J Craniofac Genet Dev Biol"
                        "fecha" => "1982"
                        "volumen" => "2"
                        "paginaInicial" => "193"
                        "paginaFinal" => "200"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/7166592"
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                      "titulo" => "Prader-Willi syndrome after 15 years"
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                            0 => "B&#46;M&#46; Laurance"
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                            2 => "J&#46; Wilkinson"
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                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:6 [
                        "tituloSerie" => "Arch Dis Child"
                        "fecha" => "1981"
                        "volumen" => "56"
                        "paginaInicial" => "181"
                        "paginaFinal" => "186"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/7212756"
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                  "referenciaCompleta" => "Smith DW&#46; Recognizable patterns of human malformations &#40;2&#46;<span class="elsevierStyleSup">a</span> ed&#46;&#41;&#46; Filadelfia&#58; W B Saunders Company&#44; 1976&#59; 86-87&#46;"
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                      "titulo" => "S&#237;ndrome de Cohen&#58; presentaci&#243;n de un caso y revisi&#243;n de la literatura"
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                            2 => "Quintana"
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                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:5 [
                        "tituloSerie" => "Rev Esp Pediatr"
                        "fecha" => "1984"
                        "volumen" => "40"
                        "paginaInicial" => "39"
                        "paginaFinal" => "44"
                      ]
                    ]
                  ]
                ]
              ]
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              "identificador" => "bib0050"
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                    0 => array:2 [
                      "titulo" => "Are the Mirhosseini-Holmes-Walton syndrome and the Cohen syndrome identical"
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                          "etal" => false
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                      "doi" => "10.1002/ajmg.1320250227"
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                        "tituloSerie" => "Am J Med Genet"
                        "fecha" => "1986"
                        "volumen" => "25"
                        "paginaInicial" => "397"
                        "paginaFinal" => "398"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/3096139"
                            "web" => "Medline"
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                      "Revista" => array:6 [
                        "tituloSerie" => "An Esp Pediatr"
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                        "paginaFinal" => "85"
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                        "link" => array:1 [
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Vol. 52. Núm. 3.
Páginas 289-295 (marzo 2000)
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Vol. 52. Núm. 3.
Páginas 289-295 (marzo 2000)
Acceso a texto completo
Síndrome de Cohen: asociación no casual con anillos vasculares
Cohen's Syndrome Non-Causal Association With Vascular Rings
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34335
C. Pérez-Caballero Macarrón*, C. Lozano Giménez, A. Quintana Castilla, J.M. Aparicio Meix
Sección de Neuropediatría. Servicios de Pediatría y Genética Clínica. Hospital Ramón y Cajal. Madrid
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El síndrome de Cohen es un trastorno autosómico recesivo que se caracteriza por la asociación de obesidad, hipotonía, retraso mental, microcefalia, dismorfia craneofacial típica, miopía y distrofia coriorretiniana. Se ha localizado el locus para el síndrome de Cohen en el cromosoma 8q 22 (COH 1). Desde su descripción más de cien pacientes han sido comunicados, no presentando ninguno de ellos asociación con anillos vasculares. Presentamos ocho casos pediátricos diagnosticados en nuestro hospital, la mayor serie publicada en España, de las cuales un 25% se asociaron con anillos vasculares.

Palabras clave:
Síndrome de Cohen
Anillo vascular
Retraso mental
Obesidad
Hipotonía

Cohen syndrome is an autosomal recessive disorder characterized by hypotonia, mental retardation, microcephalia, typical craniofacial features, myopia and chorioretinal dystrophy. The responsible gene has been mapped to chromosome 8q 22 (COH 1). Since it was described more than 100 patients have been reported. However, none of them has been associated with vascular rings. Our hospital has studied eight pediatric cases and 25% of them were related wiyh vascular rings.

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BibliografÍa
[1.]
M.M. Cohen, B.D. Hall, D.W. Smith, et al.
A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular and limb anomalies.
J Pediatr, 83 (1973), pp. 280-284
[2.]
J.C. Carey, B.D. Hall.
Confirmation of the Cohen syndrome.
J Pediatr, 93 (1978), pp. 239-244
[3.]
Mc Kusick VA. Mendelian inheritance in man (7.a ed.). Baltimore y Londres: The John Jopkins University Press, 1986; 897-898.
[4.]
R. Norio, C. Raitta, E. Lindahl.
Further delineation of the Cohen syndrome: report on chorioretinal dystrophy, leukopenia and consanguinity.
Clin Genet, 25 (1984), pp. 1-14
[5.]
E. Tahvanainen, R. Norio, E. Karila, et al.
Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis.
Nature Genetics, 7 (1994), pp. 201-204
[6.]
E. Friedman, J. Sack.
The Cohen syndrome: report of five new cases and review of the literature.
J Craniofac Genet Dev Biol, 2 (1982), pp. 193-200
[7.]
B.M. Laurance, A. Brito, J. Wilkinson.
Prader-Willi syndrome after 15 years.
Arch Dis Child, 56 (1981), pp. 181-186
[8.]
Smith DW. Recognizable patterns of human malformations (2.a ed.). Filadelfia: W B Saunders Company, 1976; 86-87.
[9.]
J. Argente, J.M. Aparicio, Quintana, et al.
Síndrome de Cohen: presentación de un caso y revisión de la literatura.
Rev Esp Pediatr, 40 (1984), pp. 39-44
[10.]
R. Norio, C. Raitta.
Are the Mirhosseini-Holmes-Walton syndrome and the Cohen syndrome identical.
Am J Med Genet, 25 (1986), pp. 397-398
[11.]
J. Arcas, J.J. García, J. Ramos, et al.
Síndrome de Cohen: presentación de dos casos de gemelas.
An Esp Pediatr, 34 (1991), pp. 83-85
[12.]
G. Massa, L. Dooms, Vanderschueren-Lodeweyckx.
Growth hormone deficiency in a girl with the Cohen syndrome.
J Med Genet, 28 (1991), pp. 48-50
[13.]
J. Sack, E. Friedman.
Cardiac involvement in the Cohen syndrome: a case report.
Clin Genet, 17 (1980), pp. 317-319
[14.]
T.L. Schlichtemeier, G.E. Tomlinson, B.A. Kamen, et al.
Multiple coagulation defects and the Cohen syndrome.
Clin Genet, 45 (1994), pp. 212-216
[15.]
S. Kivitie-Kallio, J. Rajantie, Juvonen, et al.
Granulocytopenia in Cohen syndrome.
Br J Haematol, 98 (1997), pp. 308-311
[16.]
R. Norio.
Cohen syndrome is neither uncommon nor new.
Am J Med Genet, 53 (1994), pp. 202
[17.]
J.P. Fryns, E. Legius, K. Devriendt, et al.
Cohen syndrome: the clinical symptoms and stigmata at a young age.
Clin Genet, 49 (1996), pp. 237-241
[18.]
O. Steinlein, G. Tariverdian, H.U. Boll, et al.
Tapetoretinal degeneration in brothers with apparent Cohen syndrome.
Am J Med Genet, 41 (1991), pp. 196-200
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