Septo-optic-dysplasia-schizencephaly. Radiographic and Clinical Features
Overview
Affiliations
The anatomical anomalies that characterize septo-optic-dysplasia (deMorsier Syndrome) are variable and often subtle. We report imaging studies of nine patients with septo-optic-dysplasia which provide radiologic and ultrasonographic clues to this disorder. In addition, we propose that cerebral schizencephaly may be a component of the dysmorphogenesis that results in septo-optic-dysplasia. Septo-optic-dysplasia-schizencephaly complex is frequently associated with endocrinologic, ophthalmologic, and neurologic symptoms and signs.
Septo-optic dysplasia plus: A case report for reviewing and recognizing this condition.
Reyes A, Galvis J, Estupinan Y Biomedica. 2024; 44(4):451-459.
PMID: 39531547 PMC: 11781599. DOI: 10.7705/biomedica.7370.
[Septo optic dysplasia plus: about a case].
Ouazzani L, Jadib A, Laoudiyi D, Youssef S, Chbani K, Salam S Pan Afr Med J. 2022; 42:17.
PMID: 35812255 PMC: 9228923. DOI: 10.11604/pamj.2022.42.17.33198.
The spectrum of brain malformations and disruptions in twins.
Park K, Chapman T, Aldinger K, Mirzaa G, Zeiger J, Beck A Am J Med Genet A. 2020; 185(9):2690-2718.
PMID: 33205886 PMC: 8683564. DOI: 10.1002/ajmg.a.61972.
Benson J, Nascene D, Truwit C, McKinney A Clin Neuroradiol. 2018; 29(3):505-513.
PMID: 29663010 DOI: 10.1007/s00062-018-0687-z.
Brain Malformations Do Not Predict Hypopituitarism in Young Children with Optic Nerve Hypoplasia.
Garcia-Filion P, Almarzouki H, Fink C, Geffner M, Nelson M, Borchert M Horm Res Paediatr. 2017; 88(3-4):251-257.
PMID: 28848142 PMC: 5647222. DOI: 10.1159/000479029.