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Plain radiograph of the hand and wrist in the index case showing the cone-shaped epiphyses of the phalanges (arrows).</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "María del Carmen Cortés Jiménez, Raquel M. Fernández García, Emilio García García" "autores" => array:3 [ 0 => array:2 [ "nombre" => "María del Carmen" "apellidos" => "Cortés Jiménez" ] 1 => array:2 [ "nombre" => "Raquel M." 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There was no reported history of similar spots in family members.</p><p id="par0015" class="elsevierStylePara elsevierViewall">The physical examination revealed the presence of more than 10 café-au-lait spots more than 5<span class="elsevierStyleHsp" style=""></span>mm in diameter. There were no ephelides. She had slightly raised, yellowish lesions measuring less than 1<span class="elsevierStyleHsp" style=""></span>cm on the scalp and back and asymmetry of the left lower extremity with pronounced bowing (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). The plain radiograph evinced cortical thickening and narrowing of the medullary canal thinning, suggestive of tibial dysplasia with congenital pseudarthrosis (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">Genetic testing detected a heterozygous pathogenic variant, c.7486C<span class="elsevierStyleHsp" style=""></span>><span class="elsevierStyleHsp" style=""></span>T p.(Arg2496Ter), in the <span class="elsevierStyleItalic">NF1</span> gene, with an autosomal dominant pattern of inheritance.</p><p id="par0025" class="elsevierStylePara elsevierViewall">Despite not having parents with known disease, she met the criteria for diagnosis of neurofibromatosis (NF).<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,2</span></a></p><p id="par0030" class="elsevierStylePara elsevierViewall">We ought to highlight the rarity of a finding such as tibial dysplasia and pseudarthrosis, which only occurs in about 5% of children with a diagnosis of NF type 1.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> These children are at higher risk of bone fracture.<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">It is important to guarantee a multidisciplinary follow-up and access to appropriate treatment for these patients.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2023-01-19" "fechaAceptado" => "2023-04-28" "multimedia" => array:2 [ 0 => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1006 "Ancho" => 755 "Tamanyo" => 90635 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0230" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Left lower extremity asymmetry with pronounced bowing.</p>" ] ] 1 => array:8 [ "identificador" => "fig0010" "etiqueta" => "Figure 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 733 "Ancho" => 1074 "Tamanyo" => 79751 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0235" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Cortical thickening and narrowing of the medullary canal suggestive of tibial dysplasia with congenital pseudarthrosis.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:3 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "E. Legius" 1 => "L. Messiaen" 2 => "P. Wolkenstein" 3 => "P. Pancza" 4 => "R.A. Avery" 5 => "Y. Berman" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1038/s41436-021-01170-5" "Revista" => array:6 [ "tituloSerie" => "Genet Med." "fecha" => "2021" "volumen" => "23" "paginaInicial" => "1506" "paginaFinal" => "1513" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/34012067" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "H. Kehrer-Sawatzki" 1 => "D.N. 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"fecha" => "2019" "volumen" => "143" "numero" => "5" ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/23412879/0000009900000006/v1_202312211250/S2341287923001837/v1_202312211250/en/main.assets" "Apartado" => array:4 [ "identificador" => "77701" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Images in Paediatrics" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/23412879/0000009900000006/v1_202312211250/S2341287923001837/v1_202312211250/en/main.pdf?idApp=UINPBA00005H&text.app=https://analesdepediatria.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2341287923001837?idApp=UINPBA00005H" ]
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