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AJP Rep 2016; 06(01): e112-e114
DOI: 10.1055/s-0036-1571330
DOI: 10.1055/s-0036-1571330
Case Report
Septo-Optic Dysplasia in a Newborn Presenting with Bilateral Dilated and Fixed Pupils
Further Information
Publication History
16 February 2014
10 April 2014
Publication Date:
26 February 2016 (online)
![](https://www.thieme-connect.de/media/ajpr/201601/lookinside/thumbnails/10-1055-s-0036-1571330_140008-1.jpg)
Abstract
Introduction We describe a newborn female infant with septo-optic dysplasia (SOD) presenting with bilateral dilated and fixed pupils.
Conclusion Our report is unique because the incidental finding of bilateral dilated and fixed pupils on the newborn exam was the only clinical finding which led to a prompt work-up and eventual diagnosis of SOD.
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References
- 1 Patel L, McNally RJ, Harrison E, Lloyd IC, Clayton PE. Geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in Northwest England. J Pediatr 2006; 148 (1) 85-88
- 2 Kelberman D, Dattani MT. Septo-optic dysplasia - novel insights into the aetiology. Horm Res 2008; 69 (5) 257-265
- 3 McCabe MJ, Alatzoglou KS, Dattani MT. Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. Best Pract Res Clin Endocrinol Metab 2011; 25 (1) 115-124
- 4 Orrico A, Galli L, Zappella M , et al. Septo-optic dysplasia with digital anomalies associated with maternal multidrug abuse during pregnancy. Eur J Neurol 2002; 9 (6) 679-682
- 5 Lee AG, Taber KH, Hayman LA, Tang RA. A guide to the isolated dilated pupil. Arch Fam Med 1997; 6 (4) 385-388
- 6 Gräf MH, Jungherr A. Clinicopathologic reports, case reports, and small case series: congenital mydriasis, failure of accommodation, and patent ductus arteriosus. Arch Ophthalmol 2002; 120 (4) 509-510
- 7 Stevens CA, Dobyns WB. Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis. Am J Med Genet A 2004; 125A (1) 12-16
- 8 Webb EA, Dattani MT. Septo-optic dysplasia. Eur J Hum Genet 2010; 18 (4) 393-397
- 9 Borchert M. Reappraisal of the optic nerve hypoplasia syndrome. J Neuroophthalmol 2012; 32 (1) 58-67
- 10 Siatkowski RM, Sanchez JC, Andrade R, Alvarez A. The clinical, neuroradiographic, and endocrinologic profile of patients with bilateral optic nerve hypoplasia. Ophthalmology 1997; 104 (3) 493-496
- 11 Ahmad T, Garcia-Filion P, Borchert M, Kaufman F, Burkett L, Geffner M. Endocrinological and auxological abnormalities in young children with optic nerve hypoplasia: a prospective study. J Pediatr 2006; 148 (1) 78-84