Septo-optic dysplasia with cerebellar hemiagenesis - a rare congenital malformation.
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منابع مشابه
Septo-optic Dysplasia
The SOD phenotype is highly heterogeneous and diagnosis is made in the presence of at least two of these three features. [5] Only about a third of patients have all three features but patients with any component of the syndrome should be screened for the other features too. The cause of SOD is unknown but viral infections, gestational diabetes, environmental teratogens, vascular or degenerative...
متن کاملSepto-optic Dysplasia
The SOD phenotype is highly heterogeneous and diagnosis is made in the presence of at least two of these three features. [5] Only about a third of patients have all three features but patients with any component of the syndrome should be screened for the other features too. The cause of SOD is unknown but viral infections, gestational diabetes, environmental teratogens, vascular or degenerative...
متن کاملSepto-optic dysplasia.
Septo-optic dysplasia (SOD), also referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: midline brain abnormalities, optic nerve hypoplasia (ONH) and pituitary endocrine dysfunction. We report 5 children with SOD, originally referred to be evaluated due to short stature, who also presented bilateral optic nerve hypoplasia, nystag...
متن کامل[Congenital mydriasis as an initial sign of septo-optic dysplasia].
Septo-optic dysplasia (SOD)[MIM182230] consisting of a heterogeneous and uncommon condition characterised by the classictriad: optic nerve hypoplasia, abnormalities of pituitary hormone, and defects of thebrain midline (including agenesis of the septum pellucidum and/or the corpus callosum; ithas also been described associated cortical malformations, it was referred to as SOD plus syndrome).We ...
متن کاملSepto-optic dysplasia with olfactory tract hypoplasia
Copyright © Journal of Pediatric Neurosciences Septo-optic dysplasia with olfactory tract hypoplasia Manuel Ribeiro, Álvaro Machado, and João Soares-Fernandes Department of Neuradiology, Hospital de São Marcos, Braga, Portugal. Department of Neurology, Hospital de São Marcos, Braga, Portugal. Address for Correspondence: Dr. Alvaro Machado, Hospital de São Marcos Largo Carlos Amarante Ap 4200 Br...
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ژورنال
عنوان ژورنال: J Med Sci
سال: 2019
ISSN: 0972-110X,0972-110X
DOI: 10.33883/jms.v22i2.454