A Boy With Mental Retardation, Blepharophimosis And Hypothyroidism: A Diagnostic Dilemma Between Young-simpson And Ohdo Syndrome.

dc.creatorMarques-de-faria, A P
dc.creatorMaciel-Guerra, A T
dc.creatorJúnior, G G
dc.creatorBaptista, M T
dc.date2000-Jul
dc.date2015-11-27T12:22:37Z
dc.date2015-11-27T12:22:37Z
dc.date.accessioned2018-03-29T00:54:16Z
dc.date.available2018-03-29T00:54:16Z
dc.identifierClinical Dysmorphology. v. 9, n. 3, p. 199-204, 2000-Jul.
dc.identifier0962-8827
dc.identifier
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/10955481
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/194564
dc.identifier10955481
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1294797
dc.descriptionWe report a male infant with an association of hypothyroidism and unusual facies, including blepharophimosis, which is similar to the dysmorphic features observed in the condition first described by Young and Simpson [(1987) J Med Genet 24:715-7161. On the other hand, the patient also shares many features with those reported as having Ohdo blepharophimosis syndrome [Ohdo et al, (1986) J Med Genet 23:242-244]. Previous case reports are reviewed and difficulties concerning the differential diagnosis of these conditions are discussed.
dc.description9
dc.description199-204
dc.languageeng
dc.relationClinical Dysmorphology
dc.relationClin. Dysmorphol.
dc.rightsfechado
dc.rights
dc.sourcePubMed
dc.subjectAbnormalities, Multiple
dc.subjectBlepharophimosis
dc.subjectDiagnosis, Differential
dc.subjectHumans
dc.subjectHypothyroidism
dc.subjectInfant
dc.subjectIntellectual Disability
dc.subjectMale
dc.subjectSyndrome
dc.titleA Boy With Mental Retardation, Blepharophimosis And Hypothyroidism: A Diagnostic Dilemma Between Young-simpson And Ohdo Syndrome.
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución