Share
array:23 [ "pii" => "S2173579419301975" "issn" => "21735794" "doi" => "10.1016/j.oftale.2019.09.011" "estado" => "S300" "fechaPublicacion" => "2020-01-01" "aid" => "1579" "copyrightAnyo" => "2019" "documento" => "article" "crossmark" => 1 "subdocumento" => "fla" "cita" => "Arch Soc Esp Oftalmol. 2020;95:38-41" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "Traduccion" => array:1 [ "es" => array:18 [ "pii" => "S0365669119302989" "issn" => "03656691" "doi" => "10.1016/j.oftal.2019.09.016" "estado" => "S300" "fechaPublicacion" => "2020-01-01" "aid" => "1579" "documento" => "article" "crossmark" => 1 "subdocumento" => "fla" "cita" => "Arch Soc Esp Oftalmol. 2020;95:38-41" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:2 [ "total" => 13 "formatos" => array:2 [ "HTML" => 9 "PDF" => 4 ] ] "es" => array:13 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Comunicación corta</span>" "titulo" => "Alteraciones de la motilidad ocular en el síndrome de Kabuki" "tienePdf" => "es" "tieneTextoCompleto" => "es" "tieneResumen" => array:2 [ 0 => "es" 1 => "en" ] "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "38" "paginaFinal" => "41" ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Changes in ocular motility in Kabuki syndrome" ] ] "contieneResumen" => array:2 [ "es" => true "en" => true ] "contieneTextoCompleto" => array:1 [ "es" => true ] "contienePdf" => array:1 [ "es" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figura 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 500 "Ancho" => 905 "Tamanyo" => 53690 ] ] "descripcion" => array:1 [ "es" => "<p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Cejas arqueadas y espesas pero en su tercio lateral escasamente pobladas.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "I. del Cerro, P. Merino, P. Gómez de Liaño, G. Alan" "autores" => array:4 [ 0 => array:2 [ "nombre" => "I." "apellidos" => "del Cerro" ] 1 => array:2 [ "nombre" => "P." "apellidos" => "Merino" ] 2 => array:2 [ "nombre" => "P." "apellidos" => "Gómez de Liaño" ] 3 => array:2 [ "nombre" => "G." "apellidos" => "Alan" ] ] ] ] ] "idiomaDefecto" => "es" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S2173579419301975" "doi" => "10.1016/j.oftale.2019.09.011" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2173579419301975?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0365669119302989?idApp=UINPBA00004N" "url" => "/03656691/0000009500000001/v2_202108150636/S0365669119302989/v2_202108150636/es/main.assets" ] ] "itemSiguiente" => array:18 [ "pii" => "S2173579419301963" "issn" => "21735794" "doi" => "10.1016/j.oftale.2019.09.010" "estado" => "S300" "fechaPublicacion" => "2020-01-01" "aid" => "1577" "documento" => "article" "crossmark" => 1 "subdocumento" => "fla" "cita" => "Arch Soc Esp Oftalmol. 2020;95:42-4" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:12 [ "idiomaDefecto" => true "titulo" => "Miliary tuberculosis and choroidal tuberculoma in a three-month old baby girl: Diagnosis and follow-up of a case" "tienePdf" => "en" "tieneTextoCompleto" => "en" "tieneResumen" => array:2 [ 0 => "en" 1 => "es" ] "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "42" "paginaFinal" => "44" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Tuberculosis miliar y tuberculoma coroideo en una niña de 3 meses: Diagnóstico y seguimiento de un caso" ] ] "contieneResumen" => array:2 [ "en" => true "es" => true ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 648 "Ancho" => 905 "Tamanyo" => 53515 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Fig. " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Yellow-grayish lesion without vitreous compromise (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article).</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "S. Macías-Franco, M. Fernández-García, C. Costales-Álvarez, J. Mayordomo-Colunga, P. Rozas-Reyes" "autores" => array:5 [ 0 => array:2 [ "nombre" => "S." "apellidos" => "Macías-Franco" ] 1 => array:2 [ "nombre" => "M." "apellidos" => "Fernández-García" ] 2 => array:2 [ "nombre" => "C." "apellidos" => "Costales-Álvarez" ] 3 => array:2 [ "nombre" => "J." "apellidos" => "Mayordomo-Colunga" ] 4 => array:2 [ "nombre" => "P." "apellidos" => "Rozas-Reyes" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S0365669119302965" "doi" => "10.1016/j.oftal.2019.09.014" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0365669119302965?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2173579419301963?idApp=UINPBA00004N" "url" => "/21735794/0000009500000001/v1_202001140744/S2173579419301963/v1_202001140744/en/main.assets" ] "itemAnterior" => array:19 [ "pii" => "S217357941930194X" "issn" => "21735794" "doi" => "10.1016/j.oftale.2019.10.002" "estado" => "S300" "fechaPublicacion" => "2020-01-01" "aid" => "1585" "copyright" => "Sociedad Española de Oftalmología" "documento" => "article" "crossmark" => 1 "subdocumento" => "fla" "cita" => "Arch Soc Esp Oftalmol. 2020;95:34-7" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:13 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Short communication</span>" "titulo" => "Bilateral enucleation due to multi-bacterial fulminant endogenous panophthalmitis" "tienePdf" => "en" "tieneTextoCompleto" => "en" "tieneResumen" => array:2 [ 0 => "en" 1 => "es" ] "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "34" "paginaFinal" => "37" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Enucleación bilateral por panoftalmitis endógena polimicrobiana fulminante" ] ] "contieneResumen" => array:2 [ "en" => true "es" => true ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0010" "etiqueta" => "Fig. 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 685 "Ancho" => 1255 "Tamanyo" => 152386 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0010" "detalle" => "Fig. " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Photograph of surgical parts, deformed ocular globes covered by hemorrhagic inflammatory exudate (a). Pigmented uvea fragments, replaced by inflammatory exudate (b). Pale pink sclera interrupted and infiltrated by a fibrin-purulent exudate which also occupies the vitreous (c). Filamented variable gram bacillus (d, e); culture identified <span class="elsevierStyleItalic">Klebsiella pneumoniae</span>. Staining with calcofluor white evidencing the presence of yeasts (f); culture identified <span class="elsevierStyleItalic">Candida magnoliae</span>.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "T.A. Chaparro Tapias, C.M. Rangel Gualdron, H.A. Rodriguez, L.M. Rodriguez, L. Flores de los Reyes, J.C. Sánchez España" "autores" => array:6 [ 0 => array:2 [ "nombre" => "T.A." "apellidos" => "Chaparro Tapias" ] 1 => array:2 [ "nombre" => "C.M." "apellidos" => "Rangel Gualdron" ] 2 => array:2 [ "nombre" => "H.A." "apellidos" => "Rodriguez" ] 3 => array:2 [ "nombre" => "L.M." "apellidos" => "Rodriguez" ] 4 => array:2 [ "nombre" => "L." "apellidos" => "Flores de los Reyes" ] 5 => array:2 [ "nombre" => "J.C." "apellidos" => "Sánchez España" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S0365669119303053" "doi" => "10.1016/j.oftal.2019.10.005" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0365669119303053?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S217357941930194X?idApp=UINPBA00004N" "url" => "/21735794/0000009500000001/v1_202001140744/S217357941930194X/v1_202001140744/en/main.assets" ] "en" => array:18 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Short communication</span>" "titulo" => "Changes in ocular motility in Kabuki syndrome" "tieneTextoCompleto" => true "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "38" "paginaFinal" => "41" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "I. del Cerro, P. Merino, P. Gómez de Liaño, G. Alan" "autores" => array:4 [ 0 => array:2 [ "nombre" => "I." "apellidos" => "del Cerro" ] 1 => array:4 [ "nombre" => "P." "apellidos" => "Merino" "email" => array:1 [ 0 => "pilimerino@gmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "*" "identificador" => "cor0005" ] ] ] 2 => array:2 [ "nombre" => "P." "apellidos" => "Gómez de Liaño" ] 3 => array:2 [ "nombre" => "G." "apellidos" => "Alan" ] ] "afiliaciones" => array:1 [ 0 => array:2 [ "entidad" => "Sección de Motilidad Ocular, Departamento de Oftalmología, Hospital Universitario Gregorio Marañón, Madrid, Spain" "identificador" => "aff0005" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Alteraciones de la motilidad ocular en el síndrome de Kabuki" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0010" "etiqueta" => "Fig. 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 678 "Ancho" => 905 "Tamanyo" => 47415 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0010" "detalle" => "Fig. " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Bilateral ptosis with hyperaction of RE lower oblique.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">The Kabuki syndrome (KS) is a rare genetic disorder with multiple congenital malformations caused by mutation in the KMT2D or KDM6A genes<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a>. It is mainly sporadic although can also be familial<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a>. The main feature is a typical facial characteristic reminiscent of the makeup utilized in the Japanese Kabuki theater<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a>. Kabuki syndrome was first described in Japan<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> in 1981. Children with said syndrome exhibit a broad range of pathologies, 4 of which are characteristic, i.e. the peculiar facial traits, low stature, skeletal abnormalities and low intellectual coefficient. Additional pathologies include congenital cardiopathy, palate abnormalities, blood cancer diseases, endocrine disorders, etc.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1–4</span></a>. Ophthalmological pathologies described to date are lengthened palpebral fissures with eversion of the external third of the lower eyelid, arched and thick eyebrows but sparsely populated in the lateral third (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>), strabismus, ptosis, epicanthus, Marcus Gunn pupils, refractive defects, nystagmus, microphthalmia, microcornea, megalocornea, coloboma, optic disc alterations, corneal opacities, Phthisis bulbi, bluish sclera, cataract, abnormal electroretinogram, abnormal visual potentials, amblyopia, ophthalmoplegia, VI cranial nerve pair palsy and nasolacrimal pathway obstruction<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,4–7</span></a>.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0010" class="elsevierStylePara elsevierViewall">A bibliographic search found that the most frequent strabismus is esotropia associated to hypermetropia<a class="elsevierStyleCrossRefs" href="#bib0020"><span class="elsevierStyleSup">4,7</span></a>.</p><p id="par0015" class="elsevierStylePara elsevierViewall">Very few series have been published on said syndrome. The present paper presents 5 cases of KS seen in the Strabismus practice of the authors’ center, 4 with ophthalmological compromise.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Case series</span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Case 1</span><p id="par0020" class="elsevierStylePara elsevierViewall">Female, born within term, instrumented vaginal delivery without further complications. Pregnancy was controlled, gestational diabetes was countered with diet and exercising, echographies did not reveal alterations. During the neonatal period, the patient was admitted due to non-isoimmune hyperbilirubinemia, slight hypotonic syndrome and interventricular communication. KS was confirmed due to frameshift mutation in heterozygous gene KTM2D at the age of 3 years and 10 months. The patient first visited the ophthalmology practice due to congenital bilateral nasolacrimal duct obstruction that required surgical treatment. Ophthalmological examination produced best corrected visual acuity (BCVA) of 1 in both eyes (BE), with a refraction defect of 1.5 in right eye (RE), +2.0. −1 a 40° in left eye (LE). The patient associated 10 dp esotropia with slight hyperaction (+/+++) of both lower oblique muscles (LOB) and slight hypofunction (+/+++) of both upper oblique muscles (UOB), together with V syndrome and bilateral ptosis (<a class="elsevierStyleCrossRefs" href="#fig0010">Figs. 2 and 3</a>). The patient only needed treatment with spectacles. Systemic compromise included immune thrombocytopenia, intervened trigonocephaly, velopharyngeal insufficiency and muscle hypotony.</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><elsevierMultimedia ident="fig0015"></elsevierMultimedia></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Case 2</span><p id="par0025" class="elsevierStylePara elsevierViewall">Female, born within term through vaginal delivery, uneventful neonatal period, controlled pregnancy and vaccination calendar up to date. This patient first visited the authors’ practice at the age of 10 due to manifest strabismus referred by the area ophthalmology in the context of KS with KMT2D mutation. Examination showed BCVA of 1 in BE, refraction defect of −1 to 110° and −1 to 80°, associating esotropia +15 dp for near vision and +20 dp 4 far vision with moderate LOB hyperaction (++/+++) and moderate hypofunction (++/+++) UOB, accompanied by V syndrome and decompensated DVD.</p><p id="par0030" class="elsevierStylePara elsevierViewall">This was the only patient that required surgery for strabismus with LOB anteroposition. During surgery, LOB muscles were seen to be very thin. Botulinum toxin (BT) was administered in both middle rectus and spectacles were prescribed, with the patient having +5 dp esotropia and slight V syndrome.</p><p id="par0035" class="elsevierStylePara elsevierViewall">Systemic compromise of said patient included urinary tract infections, IgG hypogammaglobulinemia, intellectual disability, deficit of vitamin C and iron, obesity, early puberty, trichotillomania disorder and factor VII deficit.</p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Case 3</span><p id="par0040" class="elsevierStylePara elsevierViewall">Male, eutocic delivery. Sporadic exposure to alcohol during the first weeks of pregnancy, gestational diabetes controlled with dieting and detection of kidney anomalies and polyhydramnios in echography. The first visit took place at age 2 due to manifest strabismus in the context of KS. Examination showed +2 D refraction defect in BE. In addition, the patient associated 30 dp esotropia for near and far vision that required BT injection in medial rectus and spectacles, remaining with 10 dp esotropia.</p><p id="par0045" class="elsevierStylePara elsevierViewall">The latest examination at age 7 produced a corrected VA of 0.8 in RE and 0.9 in LE, minor hyperfunction (+/+++) of LOB, with slight V condition and minor hypofunction (+/+++) of UOB. Systemic compromise included horseshoe kidney, muscle hypotony, interventricular communication, bronchiolitis IgG andhypogammaglobulinemia.</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Case 4</span><p id="par0050" class="elsevierStylePara elsevierViewall">Male, born within term, eutocic delivery, unremarkable neonatal period, controlled pregnancy and vaccination calendar up to date. Pregnancy was spontaneous and without complications. The baby was admitted one month due to breathing problems and congenital cardiopathy diagnostic. The first visit to the ophthalmology practice was at age 6 to discard ophthalmic pathology in the context of KS. Examination produced BCVA of 0.5 in RE and 0.7 in LE, +1.75. −0.50 refraction defect at 165° in RE and +2.50. −0.50 at 16°. The patient associated 20 dp esotropia in near and far vision with minor hyperaction (+/+++) LOB and minor hypofunction (+/+++) in UOB together with V syndrome and spring nystagmus. In addition, the patient exhibited torticollis on the left side of the face and lowered chin. At present, the patient is checked up regularly. Systemic compromise includes attention deficit hyperactivity disorder (ADHD), learning disorder, interventricular communication, bilateral pelvic ectasia, umbilical hernia, muscular hypotony and ventriculomegaly.</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0055">Case 5</span><p id="par0055" class="elsevierStylePara elsevierViewall">Female, born within term, cesarean delivery due to the buttocks presentation, pregnancy without complications. The first visit was at age 6 to discard ophthalmological pathology in the context of her syndrome. Examination showed BCVA of 1 in BE, without ophthalmological pathology. Systemic compromise comprised IgG hypogammaglobulinemia, hip dysplasia, congenital torticollis that improved with rehabilitation, plagiocephaly, rhinolalia, short palate and distal epiphyseal fibula detachment.</p><p id="par0060" class="elsevierStylePara elsevierViewall"><a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a> shows the main characteristics of each patient.</p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia></span></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0060">Discussion</span><p id="par0065" class="elsevierStylePara elsevierViewall">The literature comprises very few KS reports describing ophthalmological and strabological disorders. However, according to current bibliography, there seems to be an increase in the frequency of esotropia, hyperaction of LOB and hypofunction of UOB<span class="elsevierStyleSup">11</span>.</p><p id="par0070" class="elsevierStylePara elsevierViewall">None of the articles described the presence of the V syndrome. However, in the present review 100% of patients exhibited ocular movement compromise. The V syndrome could be related to anomalies in the extraocular muscle pathways related to the shape of the orbit of these patients. Even so, this finding would have to be demonstrated with magnetic resonance (MR) under sedation due to the frequently poor cooperation of patients with said syndrome.</p><p id="par0075" class="elsevierStylePara elsevierViewall">Despite the higher frequency of hypermetropia in the present review, there is no evidence for higher frequency of myopia or hypermetropia<span class="elsevierStyleSup">6,11</span>.</p><p id="par0080" class="elsevierStylePara elsevierViewall">Many of the ophthalmological characteristics reported in said syndrome could produce significant visual impairment. Even so, ocular problems are not referenced or underestimated and therefore it cannot be determined how many of the described KS patients exhibit ophthalmological impairment. Electrophysiological and VEP tests are indicated when finding anomalous VA after adequate optical correction under cycloplegia. None of the cases reported herein underwent said test due to adequate VA for the age observed after optical prescription.</p><p id="par0085" class="elsevierStylePara elsevierViewall">Assessment of children with KS requires a multidisciplinary approach. The authors wish to emphasize the importance of ophthalmological examination for all patients with KS for early detection of ocular abnormalities in order to prevent visual damage such as amblyopia. Exclusively for research purposes or in cases with poor surgical results, it would be interesting to use NMR to study possible alterations of extraocular muscles that account for the V clinic.</p><p id="par0090" class="elsevierStylePara elsevierViewall">Orbital MR during the follow-up of patients could provide data to increase scientific knowledge on the pathway of extraocular muscles that could explain the V incomitance observed in 8% of cases, without the characteristic hypotropia of LOB that could not be demonstrated intraoperatively. The needed to sedate these patients has led to delaying said tests.</p></span><span id="sec0045" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0065">Conflict of interests</span><p id="par0095" class="elsevierStylePara elsevierViewall">No conflict of interests was declared by the authors</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:9 [ 0 => array:3 [ "identificador" => "xres1285912" "titulo" => "Abstract" "secciones" => array:1 [ 0 => array:1 [ "identificador" => "abst0005" ] ] ] 1 => array:2 [ "identificador" => "xpalclavsec1188498" "titulo" => "Keywords" ] 2 => array:3 [ "identificador" => "xres1285913" "titulo" => "Resumen" "secciones" => array:1 [ 0 => array:1 [ "identificador" => "abst0010" ] ] ] 3 => array:2 [ "identificador" => "xpalclavsec1188497" "titulo" => "Palabras clave" ] 4 => array:2 [ "identificador" => "sec0005" "titulo" => "Introduction" ] 5 => array:3 [ "identificador" => "sec0010" "titulo" => "Case series" "secciones" => array:5 [ 0 => array:2 [ "identificador" => "sec0015" "titulo" => "Case 1" ] 1 => array:2 [ "identificador" => "sec0020" "titulo" => "Case 2" ] 2 => array:2 [ "identificador" => "sec0025" "titulo" => "Case 3" ] 3 => array:2 [ "identificador" => "sec0030" "titulo" => "Case 4" ] 4 => array:2 [ "identificador" => "sec0035" "titulo" => "Case 5" ] ] ] 6 => array:2 [ "identificador" => "sec0040" "titulo" => "Discussion" ] 7 => array:2 [ "identificador" => "sec0045" "titulo" => "Conflict of interests" ] 8 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "PalabrasClave" => array:2 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec1188498" "palabras" => array:4 [ 0 => "Kabuki syndrome" 1 => "ocular features" 2 => "strabismus" 3 => "esotropia" ] ] ] "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec1188497" "palabras" => array:4 [ 0 => "Sindrome de Kabuki" 1 => "características oculares" 2 => "estrabismo" 3 => "esotropía" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Kabuki syndrome is a rare genetic disorder, caused by mutation in the KMT2D or KDM6A genes, which affects several organs in the majority of patients, among which are the eyes. The most typical clinical characteristics are mental retardation, postnatal growth retardation, skeletal anomalies, and characteristic facial features. As the eyes are affected in most of the cases, ophthalmological examination is recommended for the early detection of ocular anomalies, in order to prevent visual impairment. The most frequent ocular signs are strabismus, ptosis, and refractive anomalies. A series of cases of Kabuki Syndrome is described in five children, four of whom exhibited strabismus with esotropia, over action of inferior oblique muscles, and under action of superior oblique muscles associated with a V pattern. Most published papers do not report or might underestimate the ocular problems.</p><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">It may be appropriate to perform orbital resonances in order to detect changes in the muscle paths that are related to the pathology of the eye movements found.</p></span>" ] "es" => array:2 [ "titulo" => "Resumen" "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">El Síndrome de Kabuki (SK) es una enfermedad genética rara debida a una mutación genética en los genes KMT2D y KDM6A, que afecta a múltiples órganos, entre ellos los ojos, en la mayoría de los pacientes. Las características clínicas más típicas son: facies peculiar, baja estatura, anormalidades esqueléticas y bajo coeficiente intelectual. Las manifestaciones oculares más frecuentes son el estrabismo, la ptosis y los defectos refractivos. Presentamos una serie de casos, de cinco pacientes (3 mujeres), cuatro de ellos con estrabismo en forma de esotropía, hiperacción de oblicuos inferiores e hipofunción de oblicuos superiores asociado a un síndrome V. Son pocos los casos reportados de SK que describan las afectaciones oftalmológicas y las estrabológicas. Podría ser conveniente la realización de resonancias orbitarias para detectar cambios en los trayectos musculares que estén relacionadas con la patología de los movimientos oculares encontrados.</p></span>" ] ] "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: del Cerro I, Merino P, Gómez de Liaño P, Alan G. Alteraciones de la motilidad ocular en el síndrome de Kabuki. Arch Soc Esp Oftalmol. 2020;95:38–41.</p>" ] ] "multimedia" => array:4 [ 0 => array:8 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 500 "Ancho" => 905 "Tamanyo" => 53929 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Fig. " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Arched and thick eyebrows, scarcely populated in the lateral 3rd.</p>" ] ] 1 => array:8 [ "identificador" => "fig0010" "etiqueta" => "Fig. 2" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr2.jpeg" "Alto" => 678 "Ancho" => 905 "Tamanyo" => 47415 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0010" "detalle" => "Fig. " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Bilateral ptosis with hyperaction of RE lower oblique.</p>" ] ] 2 => array:8 [ "identificador" => "fig0015" "etiqueta" => "Fig. 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 679 "Ancho" => 905 "Tamanyo" => 49474 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0015" "detalle" => "Fig. " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Bilateral ptosis with hyperaction of LE lower oblique.</p>" ] ] 3 => array:8 [ "identificador" => "tbl0005" "etiqueta" => "Table 1" "tipo" => "MULTIMEDIATABLA" "mostrarFloat" => true "mostrarDisplay" => false "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0020" "detalle" => "Table " "rol" => "short" ] ] "tabla" => array:1 [ "tablatextoimagen" => array:1 [ 0 => array:2 [ "tabla" => array:1 [ 0 => """ <table border="0" frame="\n \t\t\t\t\tvoid\n \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black"> \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="center" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Sex \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="center" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Age \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="center" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Clinic \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="center" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Refraction \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="center" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Ptosis \t\t\t\t\t\t\n \t\t\t\t\t\t</th><th class="td" title="\n \t\t\t\t\ttable-head\n \t\t\t\t " align="center" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Treatment \t\t\t\t\t\t\n \t\t\t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Case 1 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Female \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">3 years \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Endotropia, hyperfunction LOB, hypofunction UOB, V syndrome \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Hypermetropia,astigmatism \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Yes \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Lenses \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Case 2 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Female \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">10 years \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Endotropia, hyperfunction LOB, hypofunction UOB, V syndrome \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Astigmatism \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Lenses, anteroposition of LOB and BT in middle rectus \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Case 3 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Male \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">2 years \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Endotropia, V syndrome \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Hypermetropia \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Lenses, BT in middle rectus \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Case 4 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Male \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">6 years \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Endotropia, hyperfunction LOB, hypofunction UOB, V syndrome \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Hypermetropia, astigmatism \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t"> \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Lenses \t\t\t\t\t\t\n \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t ; entry_with_role_rowhead " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Case 5 \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">Female \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">6 years \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">- \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">- \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">No \t\t\t\t\t\t\n \t\t\t\t</td><td class="td" title="\n \t\t\t\t\ttable-entry\n \t\t\t\t " align="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t">- \t\t\t\t\t\t\n \t\t\t\t</td></tr></tbody></table> """ ] "imagenFichero" => array:1 [ 0 => "xTab2202805.png" ] ] ] ] "descripcion" => array:1 [ "en" => "<p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Brief summary of the main characteristics of each patient.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:7 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "N Bögershausen" 1 => "U Altunoglu" 2 => "F Beleggia" 3 => "G Yigit" 4 => "H Kayserili" 5 => "P Nürnberg" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.a.37931" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "2016" "volumen" => "170" "paginaInicial" => "3282" "paginaFinal" => "3288" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/27530281" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Rare ocular features in a case of Kabuki síndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "C Yi-Hsing" 1 => "S Ming-Hui" 2 => "H Shao-Hsuan" 3 => "L Chi-Chun" 4 => "W. Wei-Chi" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1186/1471-2415-14-143" "Revista" => array:5 [ "tituloSerie" => "Ophthalmology" "fecha" => "2014" "volumen" => "14" "paginaInicial" => "143" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/25421742" "web" => "Medline" ] ] ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0015" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Kabuki syndrome: A challenge for the primary care provider" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "B Crane" 1 => "P Alpert" 2 => "D Cyrkiel" 3 => "A. Jauregui" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/2327-6924.12044" "Revista" => array:6 [ "tituloSerie" => "J Am Assoc Nurse Pract" "fecha" => "2013" "volumen" => "25" "paginaInicial" => "522" "paginaFinal" => "526" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/24170483" "web" => "Medline" ] ] ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0020" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Ocular manifestations in Kabuki syndrome: the first report" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "A Imtiaz" 1 => "A Farrukh" 2 => "S Hisham" 3 => "A. Al-Sharif" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1007/s10792-007-9118-x" "Revista" => array:6 [ "tituloSerie" => "Int Ophthalmol" "fecha" => "2008" "volumen" => "28" "paginaInicial" => "131" "paginaFinal" => "134" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/17701103" "web" => "Medline" ] ] ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0025" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "C Turner" 1 => "K Lachlan" 2 => "N Amerasinghe" 3 => "P Hodgkins" 4 => "V Maloney" 5 => "J Barber" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1038/sj.ejhg.5201377" "Revista" => array:6 [ "tituloSerie" => "Eur J Hum Genet" "fecha" => "2005" "volumen" => "13" "paginaInicial" => "716" "paginaFinal" => "720" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/15785777" "web" => "Medline" ] ] ] ] ] ] ] ] 5 => array:3 [ "identificador" => "bib0030" "etiqueta" => "6" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Coloboma and Other Ophthalmologic Anomalies in Kabuki Syndrome: Distinction From Charge Association" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "J Ming" 1 => "K Russell" 2 => "L Bason" 3 => "D McDonald-McGinn" 4 => "EH Zackai" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.a.20277" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "2003" "volumen" => "123A" "paginaInicial" => "249" "paginaFinal" => "252" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/14608645" "web" => "Medline" ] ] ] ] ] ] ] ] 6 => array:3 [ "identificador" => "bib0035" "etiqueta" => "7" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Kabuki syndrome. Report of six cases and review of the literature with emphasis on ocular features" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "I Kluijt" 1 => "D.B Van Dorp" 2 => "M Kwee" 3 => "A Toutain" 4 => "K Keppler-Noreuil" 5 => "M Warburg" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Ophthalmic Genet" "fecha" => "1999" "volumen" => "21" "paginaInicial" => "51" "paginaFinal" => "61" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/10779849" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/21735794/0000009500000001/v1_202001140744/S2173579419301975/v1_202001140744/en/main.assets" "Apartado" => array:4 [ "identificador" => "5812" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Short communications" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/21735794/0000009500000001/v1_202001140744/S2173579419301975/v1_202001140744/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2173579419301975?idApp=UINPBA00004N" ]
