Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Jul;60(7):294-298.
doi: 10.1111/jpc.16568. Epub 2024 May 23.

Gastroschisis and septo-optic-pituitary dysplasia: Is there an association?

Affiliations

Gastroschisis and septo-optic-pituitary dysplasia: Is there an association?

Michael S Salman et al. J Paediatr Child Health. 2024 Jul.

Abstract

Aim: There are several case reports describing patients with both optic nerve hypoplasia/septo-optic-pituitary dysplasia (ONH/SOD) and gastroschisis (GS). Our aim was to investigate whether ONH/SOD is associated with GS.

Methods: A retrospective population-based study was undertaken using the Population Research Data Repository at the Manitoba Center for Health Policy in Manitoba, Canada to investigate if any patient with ONH/SOD also had GS. In addition, Winnipeg's Surgical Database of Outcomes and Management (WiSDOM), a hospital-based paediatric surgical database, was searched to ascertain if any of the patients with GS also have ONH/SOD.

Results: Cases were 124 patients with ONH/SOD diagnosed during 1990-2019. None had GS. The surgical database had 188 patients from Manitoba with GS during 1991-2019. None had ONH/SOD.

Conclusion: There does not appear to be an association between ONH/SOD and GS in our cohorts of patients with these two disorders.

Keywords: case control study; congenital anomaly; gastroschisis; optic nerve hypoplasia; paediatrics.

PubMed Disclaimer

References

    1. Garcia‐Filion P, Borchert M. Optic nerve hypoplasia syndrome: A review of the epidemiology and clinical associations. Curr. Treat. Options. Neurol. 2013; 15: 78–89.
    1. Khaper T, Bunge M, Clark I et al. Increasing incidence of optic nerve hypoplasia/septo‐optic dysplasia spectrum: Geographic clustering in Northern Canada. Paediatr. Child Health 2017; 22: 445–453.
    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: 85–88.
    1. Garne E, Rissmann A, Addor MC et al. Epidemiology of septo‐optic dysplasia with focus on prevalence and maternal age – A EUROCAT study. Eur. J. Med. Genet. 2018; 61: 483–488.
    1. McNay DE, Turton JP, Kelberman D et al. HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. J. Clin. Endocrinol. Metab. 2007; 92: 691–697.

Publication types

LinkOut - more resources