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dc.contributor.authorMartínez-Frías, María Luisa 
dc.contributor.authorArteaga, RM
dc.contributor.authorMartinez-Fernandez, Maria Luisa 
dc.contributor.authorBermejo-Sanchez, Eva 
dc.date.accessioned2022-04-18T12:03:24Z
dc.date.available2022-04-18T12:03:24Z
dc.date.issued2012-12
dc.identifier.citationBoletín del ECEMC: Rev Dismor Epidemiol 2011; VI (nº 2): 12-17es_ES
dc.identifier.issn0210–3893es_ES
dc.identifier.urihttp://hdl.handle.net/20.500.12105/14099
dc.descriptionDismorfología y Genética Clínicaes_ES
dc.description.abstractThe JMS (OMIM: 147770) is a rare autosomal dominant neuroectodermal disorder characterized by alopecia, ear malformations, conductive hearing loss, anosmia/hyposmia, and hypogonadotropic hypogonadism. Morover, some additional features have been described so far (congenital heart defect, cleft palate, mild facial asymmetry, tendency to caries, and mental retardation). Herein we report on a patient with this condition who exhibits many of the features previously described, including alopecia, malformed auricles, conductive hearing loss, facial asymmetry, and developmental delay. Interestingly, she also has features that have not been reported yet, such as preauricular pits and tags, broad depressions at the external lateral areas close to the eyes, and an abnormal left lower Eyelid. This phenotype supports the involvement of the ectoderm and neuroectoderm of the first two branchial arches in the embryologic basis of this condition. Indeed, alopecia, dental anomalies, defects of the choanae, part of the palatal valves, hypothalamic axis and hypogonadotropic hypogonadism, of epidermic origin, are derived from the ectoderm. Other defects as craniofacial alterations, including inner ear, preauricular tags, ear pits, and even microtia, and facial palsy, are derived from the neural crest, as also are the cardiac malformations. As far as we have known, the patient described here, represents the first case published from Spaines_ES
dc.language.isospaes_ES
dc.publisherInstituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER) es_ES
dc.type.hasVersionVoRes_ES
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/4.0/*
dc.subjectJohnson-McMillines_ES
dc.subjectSíndromees_ES
dc.subjectSyndromees_ES
dc.titleSíndrome de Johnson-McMillin: Descripción del primer paciente de Españaes_ES
dc.title.alternativeJohnson-McMillin syndrome (JMS): description of the first patient in Spaines_ES
dc.typejournal articlees_ES
dc.rights.licenseAtribución-NoComercial-CompartirIgual 4.0 Internacional*
dc.format.volumeVIes_ES
dc.format.number2es_ES
dc.format.page12-17es_ES
dc.description.peerreviewedNoes_ES
dc.identifier.journalBoletín del ECEMC: Revista de Dismorfología y Epidemiologíaes_ES
dc.repisalud.centroISCIIIes_ES
dc.repisalud.institucionISCIIIes_ES
dc.rights.accessRightsopen accesses_ES


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Atribución-NoComercial-CompartirIgual 4.0 Internacional
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