Literature DB >> 21037540

Septo-optic dysplasia.

M A Fard1, W Y Wu-Chen, B L Man, N R Miller.   

Abstract

Septo-optic dysplasia is a rare disorder characterized by optic nerve hypoplasia; midline developmental defects including agenesis of the septum pellucidum, thinning or absence of the corpus callosum, or both; and deficiencies of pituitary hormones. The majority of cases are sporadic but rare familial cases occur. The clinical manifestations include poor visual function in one or both eyes, developmental delay, seizures, sleep disturbances, and precocious puberty. A life-long multidisciplinary approach is crucial in the management of these patients to optimize their growth and development and to help them lead as normal lives as possible.

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Year:  2010        PMID: 21037540

Source DB:  PubMed          Journal:  Pediatr Endocrinol Rev        ISSN: 1565-4753


  7 in total

1.  Septo-optic dysplasia plus diagnosed in adulthood.

Authors:  Adrian Infante-Valenzuela; Carlos R Camara-Lemarroy; Alan L Reyes-Mondragon; Claudio E Muñiz-Landeros; Hector J Villarreal-Velazquez
Journal:  Neurol Sci       Date:  2017-05-04       Impact factor: 3.307

2.  Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.

Authors:  Jack E Steiner; Garrett N McCoy; Christopher P Hess; William B Dobyns; Denise W Metry; Beth A Drolet; Mohit Maheshwari; Dawn H Siegel
Journal:  Am J Med Genet A       Date:  2017-11-24       Impact factor: 2.802

Review 3.  Sleep in Children with Congenital Malformations of the Central Nervous System.

Authors:  Jacqueline F Yates; Matthew M Troester; David G Ingram
Journal:  Curr Neurol Neurosci Rep       Date:  2018-05-23       Impact factor: 5.081

4.  Gastroschisis Complicated by Septo-Optic Dysplasia: Two Distinct Anomalies with a Common Origin.

Authors:  Jodi Garvin; Venkatesh Sampath; Vijender R Karody
Journal:  AJP Rep       Date:  2015-10-16

5.  Endocrine Dysfunction in Children with Zika-Related Microcephaly Who Were Born during the 2015 Epidemic in the State of Pernambuco, Brazil.

Authors:  Andréia Veras Gonçalves; Demócrito de B Miranda-Filho; Líbia Cristina Rocha Vilela; Regina Coeli Ferreira Ramos; Thalia V B de Araújo; Rômulo A L de Vasconcelos; Maria Angela Wanderley Rocha; Sophie Helena Eickmann; Marli Tenório Cordeiro; Maria Liana Vieira de Oliveira Ventura; Ulisses Ramos Montarroyos; Alessandra Mertens Brainer; Maria Durce Costa Gomes; Paula Fabiana Sobral da Silva; Celina M T Martelli; Elizabeth B Brickley; Ricardo A A Ximenes
Journal:  Viruses       Date:  2020-12-22       Impact factor: 5.048

Review 6.  Novel Insights Into the Genetic Causes of Short Stature in Children.

Authors:  Concetta Mastromauro; Francesco Chiarelli
Journal:  touchREV Endocrinol       Date:  2022-05-25

7.  Six adult patients with septo-optic dysplasia and drug-resistant epilepsy: Clinical findings and course.

Authors:  Mashael AlKhateeb; Richard McLachlan; Jorge Burneo; David Diosy; Seyed Mirsattari
Journal:  Epilepsy Behav Case Rep       Date:  2017-04-19
  7 in total

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