was read the article
array:24 [ "pii" => "S234128792200031X" "issn" => "23412879" "doi" => "10.1016/j.anpede.2021.03.005" "estado" => "S300" "fechaPublicacion" => "2022-03-01" "aid" => "3127" "copyrightAnyo" => "2022" "documento" => "simple-article" "crossmark" => 1 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "crp" "cita" => "An Pediatr (Barc). 2022;96:253-5" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "Traduccion" => array:1 [ "es" => array:19 [ "pii" => "S169540332100165X" "issn" => "16954033" "doi" => "10.1016/j.anpedi.2021.03.010" "estado" => "S300" "fechaPublicacion" => "2022-03-01" "aid" => "3127" "documento" => "simple-article" "crossmark" => 1 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "crp" "cita" => "An Pediatr (Barc). 2022;96:253-5" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "es" => array:11 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">CARTAS CIENTÍFICAS</span>" "titulo" => "Expresividad extremadamente variable en el síndrome de Smith-Lemli-Opitz: revisión de 4 casos clínicos" "tienePdf" => "es" "tieneTextoCompleto" => "es" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "253" "paginaFinal" => "255" ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases" ] ] "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" => 1079 "Ancho" => 1255 "Tamanyo" => 108832 ] ] "descripcion" => array:1 [ "es" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Anomalías digitales de los casos 3 y 4.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "María José Sánchez-Soler, Ana Teresa Serrano-Antón, Vanesa López-González, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro" "autores" => array:5 [ 0 => array:2 [ "nombre" => "María José" "apellidos" => "Sánchez-Soler" ] 1 => array:2 [ "nombre" => "Ana Teresa" "apellidos" => "Serrano-Antón" ] 2 => array:2 [ "nombre" => "Vanesa" "apellidos" => "López-González" ] 3 => array:2 [ "nombre" => "María Juliana" "apellidos" => "Ballesta-Martínez" ] 4 => array:2 [ "nombre" => "Encarna" "apellidos" => "Guillén-Navarro" ] ] ] ] ] "idiomaDefecto" => "es" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S234128792200031X" "doi" => "10.1016/j.anpede.2021.03.005" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S234128792200031X?idApp=UINPBA00005H" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S169540332100165X?idApp=UINPBA00005H" "url" => "/16954033/0000009600000003/v2_202205100557/S169540332100165X/v2_202205100557/es/main.assets" ] ] "itemSiguiente" => array:19 [ "pii" => "S2341287921001125" "issn" => "23412879" "doi" => "10.1016/j.anpede.2021.06.004" "estado" => "S300" "fechaPublicacion" => "2022-03-01" "aid" => "3124" "documento" => "simple-article" "crossmark" => 1 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "crp" "cita" => "An Pediatr (Barc). 2022;96:256-8" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "en" => array:11 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Scientific Letter</span>" "titulo" => "Use of near infrared spectroscopy in neonatal gastric perforation" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "256" "paginaFinal" => "258" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Uso de la espectroscopia cercana al infrarrojo en las perforaciones gástricas en neonatología" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1528 "Ancho" => 3008 "Tamanyo" => 319781 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Record of regional oxygenation (rSO<span class="elsevierStyleInf">2</span>). In yellow, cerebral rSO<span class="elsevierStyleInf">2</span> and in blue, abdominal rSO<span class="elsevierStyleInf">2</span>. (A) NIRS tracing 12 h before surgery with significant increase in abdominal rSO<span class="elsevierStyleInf">2</span> and a decrease in cerebral rSO<span class="elsevierStyleInf">2</span> coinciding with the timing of gastric perforation. (B) NIRS tracing during surgery (4 h). (C) NIRS tracing 12 h after laparotomy and repair of gastric perforation.</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Ester Torres-Martínez, Pilar Sáenz-González, Lucía Rodríguez-Caraballo, Carsten Driller, Máximo Vento, Álvaro Solaz-García" "autores" => array:6 [ 0 => array:2 [ "nombre" => "Ester" "apellidos" => "Torres-Martínez" ] 1 => array:2 [ "nombre" => "Pilar" "apellidos" => "Sáenz-González" ] 2 => array:2 [ "nombre" => "Lucía" "apellidos" => "Rodríguez-Caraballo" ] 3 => array:2 [ "nombre" => "Carsten" "apellidos" => "Driller" ] 4 => array:2 [ "nombre" => "Máximo" "apellidos" => "Vento" ] 5 => array:2 [ "nombre" => "Álvaro" "apellidos" => "Solaz-García" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S1695403321001624" "doi" => "10.1016/j.anpedi.2021.01.018" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1695403321001624?idApp=UINPBA00005H" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2341287921001125?idApp=UINPBA00005H" "url" => "/23412879/0000009600000003/v1_202204130606/S2341287921001125/v1_202204130606/en/main.assets" ] "itemAnterior" => array:20 [ "pii" => "S2341287922000436" "issn" => "23412879" "doi" => "10.1016/j.anpede.2022.01.002" "estado" => "S300" "fechaPublicacion" => "2022-03-01" "aid" => "3247" "copyright" => "Asociación Española de Pediatría" "documento" => "article" "crossmark" => 1 "licencia" => "http://creativecommons.org/licenses/by-nc-nd/4.0/" "subdocumento" => "fla" "cita" => "An Pediatr (Barc). 2022;96:252.e1-252.e13" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "en" => array:13 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Special Article</span>" "titulo" => "Usefulness of lung ultrasound in the diagnosis and follow-up of respiratory diseases in neonates" "tienePdf" => "en" "tieneTextoCompleto" => "en" "tieneResumen" => array:2 [ 0 => "en" 1 => "es" ] "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "252.e1" "paginaFinal" => "252.e13" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Utilidad de la ecografía pulmonar en el diagnóstico y seguimiento de la patología respiratoria neonatal" ] ] "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" => "fig0015" "etiqueta" => "Figure 3" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr3.jpeg" "Alto" => 807 "Ancho" => 1305 "Tamanyo" => 141266 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0015" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Normal clearance/aeration sequence in a neonate, starting from total collapse and with progressive aeration (appearance of pleural line and A-line and disappearance of B-lines in the first seconds of life).</p>" ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Lorena Rodeño Fernández, Rebeca Gregorio Hernández, Iker Serna Guerediaga, Jon Montero Gato, Javier Rodríguez Fanjul, Victoria Aldecoa Bilbao, Paula Alonso Quintela, Almudena Alonso Ojembarrena" "autores" => array:9 [ 0 => array:2 [ "nombre" => "Lorena Rodeño" "apellidos" => "Fernández" ] 1 => array:2 [ "nombre" => "Rebeca Gregorio" "apellidos" => "Hernández" ] 2 => array:2 [ "nombre" => "Iker Serna" "apellidos" => "Guerediaga" ] 3 => array:2 [ "nombre" => "Jon Montero" "apellidos" => "Gato" ] 4 => array:2 [ "nombre" => "Javier Rodríguez" "apellidos" => "Fanjul" ] 5 => array:2 [ "nombre" => "Victoria Aldecoa" "apellidos" => "Bilbao" ] 6 => array:2 [ "nombre" => "Paula Alonso" "apellidos" => "Quintela" ] 7 => array:2 [ "nombre" => "Almudena Alonso" "apellidos" => "Ojembarrena" ] 8 => array:1 [ "colaborador" => "on behalf of the Pulmonary Ultrasound Section of the Neonatal Ultrasound Working Group of the Spanish Society of Neonatology" ] ] ] ] ] "idiomaDefecto" => "en" "Traduccion" => array:1 [ "es" => array:9 [ "pii" => "S1695403322000054" "doi" => "10.1016/j.anpedi.2022.01.002" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => true "ES2" => true "LATM" => true ] "gratuito" => true "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1695403322000054?idApp=UINPBA00005H" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S2341287922000436?idApp=UINPBA00005H" "url" => "/23412879/0000009600000003/v1_202204130606/S2341287922000436/v1_202204130606/en/main.assets" ] "en" => array:15 [ "idiomaDefecto" => true "cabecera" => "<span class="elsevierStyleTextfn">Scientific Letter</span>" "titulo" => "Extremely variable expressivity in Smith-Lemli-Opitz syndrome: Review of 4 cases" "tieneTextoCompleto" => true "saludo" => "To the editor:" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "253" "paginaFinal" => "255" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "María José Sánchez-Soler, Ana Teresa Serrano-Antón, Vanesa López-González, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro" "autores" => array:5 [ 0 => array:4 [ "nombre" => "María José" "apellidos" => "Sánchez-Soler" "email" => array:1 [ 0 => "mj.sanchezsolser@gmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Ana Teresa" "apellidos" => "Serrano-Antón" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 2 => array:3 [ "nombre" => "Vanesa" "apellidos" => "López-González" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 3 => array:3 [ "nombre" => "María Juliana" "apellidos" => "Ballesta-Martínez" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 4 => array:3 [ "nombre" => "Encarna" "apellidos" => "Guillén-Navarro" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Sección Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca (HCUVA), IMIB-Arrixaca, El Palmar, Murcia, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "CIBERER" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Expresividad extremadamente variable en el síndrome de Smith-Lemli-Opitz: revisión de 4 casos clínicos" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1079 "Ancho" => 1255 "Tamanyo" => 110719 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Finger and toe abnormalities in cases 3 and 4.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Smith-Lemli-Opitz syndrome (SLOS) is an inborn error of cholesterol metabolism due to a deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase, which usually results in elevation of 7-dehydrocholesterol levels and decreased cholesterol levels in blood and other tissues during foetal development and after birth. The syndrome is caused by biallelic pathogenic changes in the <span class="elsevierStyleItalic">DHCR7</span> gene. The classical phenotype is characterised by prenatal and postnatal growth restriction, microcephaly, multiple major and minor malformations (mainly cardiac defects, cleft palate and ambiguous genitalia) and moderate-to-severe intellectual disability.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> For reasons that remain unknown, its expressivity varies widely,<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> ranging from exceptional mild cases with normal cognitive function<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> and severe cases manifesting with central nervous system anomalies such as holoprosencephaly.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">We present 4 cases diagnosed in 2 unrelated families that represent mild and severe forms of the disease.</p><p id="par0015" class="elsevierStylePara elsevierViewall">Family 1. Girl aged 8 years born to healthy, nonconsanguineous parents, evaluated at birth due to multiple congenital anomalies: microcephaly, dysmorphic facies, punctiform cataracts, soft palate cleft, second-toe and third-toe syndactyly and hypotonia with abnormal suck. She received a clinical diagnosis of SLOS (classic phenotype), and measurement of sterol levels confirmed the elevation of 7-dehydrocholesterol (436.3 mmol/L) and decreased total cholesterol levels (27 mg/dL). Treatment with cholesterol was initiated immediately. Sequencing of the <span class="elsevierStyleItalic">DHCR7</span> gene confirmed the suspected diagnosis through the identification of the pathogenic variants c.906C>G/c.964-1G>C.</p><p id="par0020" class="elsevierStylePara elsevierViewall">During the follow-up, the patient developed severe gastro-oesophageal reflux, severe global developmental delay (absence of walking and language development) and epilepsy with onset at 9 months and poor control of seizures despite treatment with levetiracetam, lamotrigine, zonisamide and perampanel; moderate bilateral neurosensory hearing loss; recurrent respiratory tract and ear infections and obesity.</p><p id="par0025" class="elsevierStylePara elsevierViewall">The relevant family history consisted of termination of pregnancy by the parents in week 20 of a genetically male foetus (46, XY) with female sexual characteristics and holoprosencephaly on ultrasound. After SLOS was diagnosed in the patient, genetic testing of amniocytes in this pregnancy confirmed that the foetus was also affected.</p><p id="par0030" class="elsevierStylePara elsevierViewall">Family 2. Man aged 22 years, born to healthy, nonconsanguineous parents, evaluated at age 12 years for growth restriction of prenatal onset, microcephaly, cleft palate, abnormal facies (long face, high nose bridge, wide nostrils and mild downward slant of palpebral fissures), 2<span class="elsevierStyleSup">nd</span>-3<span class="elsevierStyleSup">rd</span> toe syndactyly, and short index finger attached low in the hand, as can be seen in <a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>. The patient had a brother aged 18 years with prenatal and postnatal growth restriction, bifid uvula, physically resembling the patient and with mild impairment in social skills. Both patients exhibited normal psychomotor development. Neither had cardiac or genitourinary anomalies. The initial diagnostic tests were as follows: the results of serum cholesterol measurement (145-170 mg/dL), karyotyping (46,XY), MLPA 22q11 sequencing and cranial magnetic resonance imaging were normal, and maternal phenylketonuria was ruled out. During the follow-up, the patient developed conduct disorder of moderate severity, impulsivity and poor academic achievement with engagement in risk behaviours and substance use. His intellectual quotient (IQ) was 94 (normal-average). His brother exhibited adequate academic performance and achieved goals, albeit with considerable effort. Normal social skills and relationships. The brother refused the IQ evaluation. He required placement of a drain due to recurrent ear infections and surgery for recurrent kneecap luxation. The health records show normal serum cholesterol levels at ages 6-8 years (106-125 mg/dL). In a new evaluation, the results of array comparative genomic hybridization (aCGH) were normal; given that the patients were both of reproductive age and the suspicion of a similar syndrome with variable phenotypic expression without a specific suspected diagnosis, clinical genome sequencing was performed, leading to detection of the pathogenic variants c.452G>A and c.1A>G in the <span class="elsevierStyleItalic">DHCR7</span> gene associated with SLOS.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0035" class="elsevierStylePara elsevierViewall"><a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a> summarises the clinical presentation and genotype of each case.</p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia><p id="par0040" class="elsevierStylePara elsevierViewall">The description of these cases illustrates the substantially heterogeneous expressivity of SLOS, even within families. The described biochemical profile supports the hypothesis that the syndrome is related to cholesterol transport from the mother to the embryo during pregnancy.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">In the prenatal period, SLOS should be suspected in the presence of de holoprosencephaly and ambiguous genitalia in XY foetuses, and in the postnatal period, it should be suspected in patients with intrauterine growth restriction, microcephaly, cleft palate and second-toe and third-toe syndactyly after ruling out chromosome disorders, even if the neurologic examination or the total cholesterol levels are normal.</p><p id="par0050" class="elsevierStylePara elsevierViewall">Clinical exome sequencing is clearly useful for diagnosis of SLOS in the case of atypical phenotypes or classic but mild phenotypes, which has important repercussions not only for the patients, as it allows consideration of preventive and therapeutic interventions<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a> and adequate reproductive genetic counselling, but also for their families.</p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Sánchez-Soler MJ, Serrano-Antón AT, López-González V, Ballesta-Martínez MJ, Guillén-Navarro E. Expresividad extremadamente variable en el síndrome de Smith-Lemli-Opitz: revisión de 4 casos clínicos. An Pediatr (Barc). 2022. <span class="elsevierStyleInterRef" id="intr0005" href="https://doi.org/10.1016/j.anpedi.2021.03.010">https://doi.org/10.1016/j.anpedi.2021.03.010</span></p>" ] ] "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" => 1079 "Ancho" => 1255 "Tamanyo" => 110719 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Finger and toe abnormalities in cases 3 and 4.</p>" ] ] 1 => array:8 [ "identificador" => "tbl0005" "etiqueta" => "Table 1" "tipo" => "MULTIMEDIATABLA" "mostrarFloat" => true "mostrarDisplay" => false "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0010" "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="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Case 1 \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="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Case 2 \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="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Case 3 \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="left" valign="\n \t\t\t\t\ttop\n \t\t\t\t" scope="col" style="border-bottom: 2px solid black">Case 4 \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">Age at diagnosis (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">0 \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">22 \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">18 \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">Abnormalities in prenatal ultrasound \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">IUGR and oligohydramnios \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">Holoprosencephaly and abnormal sex development \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">IUGR \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">IUGR \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">Postnatal delayed growth \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">+ \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><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">Genitourinary malformations \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">Left-sided duplicated collecting system without dilatation \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">Ambiguous genitalia \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></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">Heart malformations \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">– \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><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">2<span class="elsevierStyleSup">nd</span> and 3<span class="elsevierStyleSup">rd</span> toe syndactyly \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">+ \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><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">Cleft palate/bifid uvula \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">Cleft palate (soft palate) \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">Cleft palate \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">Bifid uvula \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">Hearing loss \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">Moderate bilateral neurosensory \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"> \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">Developmental delay \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">Severe \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">Mild \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><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">Intellectual disability \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">Severe \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">– \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">Behavioural disorder \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">+ \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><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">Serum 7-dehydrocholesterol (μmol/L) \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">436.3 \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"> \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">52.32 \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">10.16 \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">Serum total cholesterol (mg/dL) \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">27 \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">145-170 \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">106-125 \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"><span class="elsevierStyleItalic">DHCR7</span> gene sequencing \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">Pathogenic variants c.906C>G/c.964-1G>C \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">Pathogenic variants c.906C>G/c.964-1G>C \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">Pathogenic variants c.452G>A/c.1A>G \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">Pathogenic variants c.452G>A/c.1A>G \t\t\t\t\t\t\n \t\t\t\t</td></tr></tbody></table> """ ] "imagenFichero" => array:1 [ 0 => "xTab2878284.png" ] ] ] ] "descripcion" => array:1 [ "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Summary of clinical characteristics and genotype of the cases.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "A. Thurm" 1 => "E. Tierney" 2 => "C. Farmer" 3 => "P. Albert" 4 => "L. Joseph" 5 => "S. Swedo" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1186/s11689-016-9145-x" "Revista" => array:5 [ "tituloSerie" => "J Neurodev Disord" "fecha" => "2016" "volumen" => "8" "paginaInicial" => "12" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/27053961" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Discordant clinica phenotype and sterol biochemistry in SLOS" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "G. Koo" 1 => "S.K. Conley" 2 => "C.A. Wassif" 3 => "F.D. Porter" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Am J Med Genet A" "fecha" => "2010" "volumen" => "152A" "paginaInicial" => "2094" "paginaFinal" => "2098" ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0015" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Normal IQ is possible in Smith-Lemli-Opitz syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "Y. Eroglu" 1 => "M. Nguyen-Driver" 2 => "R.D. Steiner" 3 => "L. Merkens" 4 => "M. Merkens" 5 => "J.B. Roullet" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.a.38125" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet A" "fecha" => "2017" "volumen" => "173" "paginaInicial" => "2097" "paginaFinal" => "2100" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/28349652" "web" => "Medline" ] ] ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0020" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46, XX fetus" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "A. Travessa" 1 => "P. Dias" 2 => "P. Rocha" 3 => "A.B. Sousa" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/j.tjog.2017.01.012" "Revista" => array:6 [ "tituloSerie" => "Taiwan J Obstet Gynecol" "fecha" => "2017" "volumen" => "56" "paginaInicial" => "541" "paginaFinal" => "544" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/28805615" "web" => "Medline" ] ] ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0025" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "M. Witsch-Baumgartner" 1 => "M. Gruber" 2 => "H.G. Kraft" 3 => "M. Rossi" 4 => "P. Clayton" 5 => "M. Giros" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1136/jmg.2004.018085" "Revista" => array:6 [ "tituloSerie" => "J Med Genet" "fecha" => "2004" "volumen" => "41" "paginaInicial" => "577" "paginaFinal" => "584" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/15286151" "web" => "Medline" ] ] ] ] ] ] ] ] 5 => array:3 [ "identificador" => "bib0030" "etiqueta" => "6" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Smith-Lemli-Opitz syndrome: Pathogenesis, diagnosis and management" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ 0 => "F.D. Porter" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1038/ejhg.2008.10" "Revista" => array:6 [ "tituloSerie" => "Eur J Hum Genet" "fecha" => "2008" "volumen" => "16" "paginaInicial" => "535" "paginaFinal" => "541" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/18285838" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/23412879/0000009600000003/v1_202204130606/S234128792200031X/v1_202204130606/en/main.assets" "Apartado" => array:4 [ "identificador" => "38181" "tipo" => "SECCION" "en" => array:2 [ "titulo" => "Scientific letters" "idiomaDefecto" => true ] "idiomaDefecto" => "en" ] "PDF" => "https://static.elsevier.es/multimedia/23412879/0000009600000003/v1_202204130606/S234128792200031X/v1_202204130606/en/main.pdf?idApp=UINPBA00005H&text.app=https://analesdepediatria.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S234128792200031X?idApp=UINPBA00005H" ]
Year/Month | Html | Total | |
---|---|---|---|
2024 November | 9 | 8 | 17 |
2024 October | 62 | 55 | 117 |
2024 September | 77 | 43 | 120 |
2024 August | 75 | 66 | 141 |
2024 July | 85 | 34 | 119 |
2024 June | 71 | 36 | 107 |
2024 May | 74 | 50 | 124 |
2024 April | 60 | 24 | 84 |
2024 March | 66 | 41 | 107 |
2024 February | 80 | 72 | 152 |
2024 January | 76 | 34 | 110 |
2023 December | 160 | 28 | 188 |
2023 November | 127 | 38 | 165 |
2023 October | 146 | 48 | 194 |
2023 September | 81 | 38 | 119 |
2023 August | 72 | 21 | 93 |
2023 July | 94 | 36 | 130 |
2023 June | 92 | 25 | 117 |
2023 May | 99 | 38 | 137 |
2023 April | 49 | 21 | 70 |
2023 March | 92 | 22 | 114 |
2023 February | 63 | 20 | 83 |
2023 January | 63 | 20 | 83 |
2022 December | 87 | 30 | 117 |
2022 November | 62 | 25 | 87 |
2022 October | 102 | 43 | 145 |
2022 September | 77 | 34 | 111 |
2022 August | 88 | 59 | 147 |
2022 July | 86 | 56 | 142 |
2022 June | 64 | 44 | 108 |
2022 May | 60 | 44 | 104 |
2022 April | 127 | 77 | 204 |
2022 March | 101 | 61 | 162 |