Image in medicine
Waardenburg syndrome
Síndrome de Waardenburg
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She was followed up by ophthalmology and neurology for presenting heterochromia of the iris (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>) and epiphora. Neurological development was normal. She presented telecanthus (or dystopia canthorum), medial flaring of the eyebrow, wide nasal bridge, broad and high nasal root and hypoplasia of alae nasi, like several members of the paternal family.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0010" class="elsevierStylePara elsevierViewall">A genetic study, based on new generation sequencing of clinical exome, of the patient was carried out, and a heterozygous variant ((NM_181459.3) c.85+1G>T) has been detected in the PAX3 gene (OMIM* <a href="omim:601090">601090</a>) associated with Waardenburg syndrome, a rare hereditary and genetically heterogeneous disorder of neural crest cell development.</p><p id="par0015" class="elsevierStylePara elsevierViewall">Patients show some of the following characteristics: dystopia canthi medialis or telecanthus, combined with dystopia of the lacrimal, which could create epiphora; prominent broad root of nose; hypertrichosis of their medial potions of the eyebrows (synophrydia); white forelock or poliosis; total or partial heterochromia of the iris, and deafmutism or a somewhat incomplete degree of congenital deafness.</p><p id="par0020" class="elsevierStylePara elsevierViewall">This case highlights the need to perform a neurological, skin and auditive examination in patients with heterochromia iridis, hyphertrichosis or white forelock.</p><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Funding/Support</span><p id="par0030" class="elsevierStylePara elsevierViewall">None.</p></span><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Contribution</span><p id="par0025" class="elsevierStylePara elsevierViewall">We declare that all authors have contributed significantly to the work.</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Conflict of interest</span><p id="par0035" class="elsevierStylePara elsevierViewall">The authors declare that there is no conflict of interest.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:3 [ 0 => array:2 [ "identificador" => "sec0010" "titulo" => "Funding/Support" ] 1 => array:2 [ "identificador" => "sec0005" "titulo" => "Contribution" ] 2 => array:2 [ "identificador" => "sec0015" "titulo" => "Conflict of interest" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">I confirm that I have obtained all consents required by applicable law for the publication of any personal details or images of patients, research subjects or other individuals that are used in the materials submitted to Elsevier. I have retained a written copy of all such consents and I agree to provide Elsevier with copies of the consents or evidence that such consents have been obtained if requested by Elsevier I confirm that I have obtained all consents required by applicable law for the publication of any personal details or images of patients, research subjects or other individuals that are used in the materials submitted to Elsevier. I have retained a written copy of all such consents and I agree to provide Elsevier with copies of the consents or evidence that such consents have been obtained if requested by Elsevier.</p>" ] ] "multimedia" => array:1 [ 0 => array:6 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 971 "Ancho" => 1583 "Tamanyo" => 276098 ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/00257753/unassign/S002577532400304X/v1_202406260422/en/main.assets" "Apartado" => null "PDF" => "https://static.elsevier.es/multimedia/00257753/unassign/S002577532400304X/v1_202406260422/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S002577532400304X?idApp=UINPBA00004N" ]
