Septo-optic dysplasia as a cause of neonatal cholestasis
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چکیده
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 کاملSepto-optic dysplasia: a case report.
Septo-optic dysplasia also referred to as de Morsier syndrome and is a disorder of early brain development. Three characteristic features are under development (hypoplasia) of the optic nerve, abnormal formation of structures along the midline of the brain (such as absence of septum pellucidum and corpus callosum dysgenesis) and pituitary hypoplasia. CASE REPORT Female, born at 40 weeks of gest...
متن کاملSepto-Optic Dysplasia: A Mini Review
De-Morsier’s syndrome or Septo-optic dysplasia is a rare medical disorder which is strongly associated with CNS, Ophthalmological manifestations. However, in minority of patients, this condition presents with olfactory tract hypoplasia. The CNS abnormalities include abnormalities of the hypothalamicpituitary axis, hypoplasia of the optic nerve. Often, absence of septum pellucidum is seen along ...
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ژورنال
عنوان ژورنال: Residência Pediátrica
سال: 2016
ISSN: 2236-6814
DOI: 10.25060/residpediatr-2016.v6n3-08