Wide clinical spectrum in Zimmermann-Laband syndrome

dc.contributorDávalos, I.P., División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, Mexico, Instituto de Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; Brambila-Tapia, A.J.L., División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, Mexico, Instituto de Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; Dávalos, N.O., Instituto de Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; Durán-González, J., División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, Mexico, Instituto de Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; González-Mercado, M.G., División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, Mexico, Instituto de Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; Cruz-Ramos, J.A., División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, Mexico, Instituto de Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; Ríos-González, B.E., División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, Mexico, Instituto de Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; E'Vega, R., Instituto de Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; Zavala-Cerna, M.G., División de Investigación, UMAE, Hospital de Especialidades, Guadalajara, Jalisco, Mexico; García-Cruz, M.O., Instituto de Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico; García-Cruz, D., Instituto de Genética Humana, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico
dc.creatorDavalos, I.P.
dc.creatorBrambila-Tapia, A.J.L.
dc.creatorDavalos, N.O.
dc.creatorDuran-Gonzalez, J.
dc.creatorGonzalez-Mercado, M.G.
dc.creatorCruz-Ramos, J.A.
dc.creatorRios-Gonzalez, B.E.
dc.creatorE'Vega, R.
dc.creatorZavala-Cerna, M.G.
dc.creatorGarcía-Cruz, M.O.
dc.creatorGarcía-Cruz, D.
dc.date.accessioned2015-09-15T19:19:02Z
dc.date.accessioned2023-07-03T23:57:25Z
dc.date.available2015-09-15T19:19:02Z
dc.date.available2023-07-03T23:57:25Z
dc.date.created2015-09-15T19:19:02Z
dc.date.issued2011
dc.identifierhttp://hdl.handle.net/20.500.12104/45733
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-79955694611&partnerID=40&md5=ceda8cce6ab9cd473c0983c2bb98ea77
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/7251681
dc.description.abstractGingival fibromatosis can be present as an isolated form or be part of a genetic disease. The Zimmermann-Laband syndrome (ZLS) is a rare disorder inherited as an autosomal dominant fashion, clinically characterized by gingival fibromatosis, bulbous soft nose, thick floppy ears, nail dysplasia, joint hyperextensibility, hepatosplenomegaly, skeletal anomalies and occasional mental retardation. We studied a girl aged five years with clinical and radiological features of the ZLS, additionally she presented deafness not previously described in the ZLS, as only partial hearing loss was reported in some patients. The father presented some facial features suggestive of ZLS, nevertheless he did not have gingival fibromatosis or hypertrichosis. We suggest that this case supports that ZLS can be part a contiguous genes syndrome or be consequence of a gene mutation with wide variable expression. The present report supports that ZLS has a wide clinical spectrum.
dc.relationScopus
dc.relationWOS
dc.relationGenetic Counseling
dc.relation22
dc.relation1
dc.relation1
dc.relation10
dc.titleWide clinical spectrum in Zimmermann-Laband syndrome
dc.typeArticle


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