Literature DB >> 9096749

Hypothesis: septo-optic dysplasia is a vascular disruption sequence.

M S Lubinsky1.   

Abstract

Septo-optic dysplasia, a variable combination of absence of the septum pellucidum, optic nerve hypoplasia, and pituitary abnormalities, makes little embryologic sense: components arise from different tissues and processes at different times, it is seen often with porencephaly, which is asymmetric, and rarely with other midline findings, genetic causes are exceptional, and occasional absence of the pituitary stalk is developmentally anomalous. Vascular vulnerabilities of components, anatomical overlap with findings of hydranencephaly and porencephaly, and a decreased maternal age effect similar to that of other abnormalities with presumed vascular origins, suggest a vascular disruption sequence instead, possibly involving the proximal trunk of the anterior cerebral artery.

Entities:  

Mesh:

Year:  1997        PMID: 9096749

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  16 in total

1.  Congenital third nerve palsy in septo-optic dysplasia.

Authors:  A Langmann; S Lindner
Journal:  Br J Ophthalmol       Date:  2004-07       Impact factor: 4.638

2.  [Visual defects and nystagmus].

Authors:  T Struffert; W Reith
Journal:  Radiologe       Date:  2004-03       Impact factor: 0.635

Review 3.  Septo-optic dysplasia.

Authors:  Emma A Webb; Mehul T Dattani
Journal:  Eur J Hum Genet       Date:  2009-07-22       Impact factor: 4.246

Review 4.  Absent cavum septum pellucidum: a review with emphasis on associated commissural abnormalities.

Authors:  Dinesh K Sundarakumar; Sarah A Farley; Crysela M Smith; Kenneth R Maravilla; Manjiri K Dighe; Jason N Nixon
Journal:  Pediatr Radiol       Date:  2015-06-27

5.  The achiasmia spectrum: congenitally reduced chiasmal decussation.

Authors:  D A Sami; D Saunders; D A Thompson; I M Russell-Eggitt; K K Nischal; G Jeffrey; G Jeffery; M Dattani; R A Clement; A Liasis; A Liassis; D S Taylor
Journal:  Br J Ophthalmol       Date:  2005-10       Impact factor: 4.638

6.  Vascular cerebral anomalies associated with Septo-Optic Dysplasia. A case report.

Authors:  I Chiaramonte; G Cappello; A Uccello; V Guarrera; A D'Amore; T Cavallaro; R Chiaramonte; G C Ettorre
Journal:  Neuroradiol J       Date:  2013-03-08

7.  Septo-optic dysplasia-plus and dyskinetic cerebral palsy in a child.

Authors:  Antonio Trabacca; Marta De Rinaldis; Leonarda Gennaro; Luciana Losito
Journal:  Neurol Sci       Date:  2011-04-30       Impact factor: 3.307

8.  Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly.

Authors:  G Breedveld; I F de Coo; M H Lequin; W F M Arts; P Heutink; D B Gould; S W M John; B Oostra; G M S Mancini
Journal:  J Med Genet       Date:  2005-08-17       Impact factor: 6.318

9.  Refining clinical phenotypes in septo-optic dysplasia based on MRI findings.

Authors:  Stefan Riedl; Jan Vosahlo; Tadej Battelino; Branka Stirn-Kranjc; Peter C Brugger; Daniela Prayer; Andrea Müllner-Eidenböck; Klaus Kapelari; Peter Blümel; Thomas Waldhör; Jan Krasny; Jan Lebl; Herwig Frisch
Journal:  Eur J Pediatr       Date:  2008-01-30       Impact factor: 3.183

Review 10.  Hypoxia: A teratogen underlying a range of congenital disruptions, dysplasias, and malformations.

Authors:  Aaron P Adam; Kurlen S E Payton; Pedro A Sanchez-Lara; Margaret P Adam; Ghayda M Mirzaa
Journal:  Am J Med Genet A       Date:  2021-05-03       Impact factor: 2.802

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