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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, AP
Maciel-Guerra, AT
Junior, GG
Baptista, MTM
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 24:715-716]. 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. Clin Dysmorphol 9: 199-204 (C) 2000 Lippincott Williams & Wilkins.
Subject: multiple congenital anomalies/mental retardation (MCA/MR) syndrome
abnormal facies
Ohdo syndrome
Ohdo-like blepharophimosis syndrome
Young-Simpson syndrome
Country: EUA
Editor: Lippincott Williams & Wilkins
Citation: Clinical Dysmorphology. Lippincott Williams & Wilkins, v. 9, n. 3, n. 199, n. 204, 2000.
Rights: fechado
Identifier DOI: 10.1097/00019605-200009030-00009
Date Issue: 2000
Appears in Collections:Unicamp - Artigos e Outros Documentos

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