Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/194564
Type: Artigo de periódico
Title: A Boy With Mental Retardation, Blepharophimosis And Hypothyroidism: A Diagnostic Dilemma Between Young-simpson And Ohdo Syndrome.
Author: Marques-de-faria, A P
Maciel-Guerra, A T
Júnior, G G
Baptista, M T
Abstract: We 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.
Subject: Abnormalities, Multiple
Blepharophimosis
Diagnosis, Differential
Humans
Hypothyroidism
Infant
Intellectual Disability
Male
Syndrome
Citation: Clinical Dysmorphology. v. 9, n. 3, p. 199-204, 2000-Jul.
Rights: fechado
Address: http://www.ncbi.nlm.nih.gov/pubmed/10955481
Date Issue: 2000
Appears in Collections:Unicamp - Artigos e Outros Documentos

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