Septo-optic dysplasia: antenatal risk factors and clinical features in a regional study.

BACKGROUND

Septo-optic dysplasia (SOD) is a disorder with postulated environmental and genetic aetiology. This study delineates clinical features and potential perinatal environmental factors along with epidemiology in SOD children.

METHODS

Assessment of patients with SOD triad features in the UK West Midlands region.

RESULTS

Of 227 patients identified between 1998 and 2009 with 1 or more feature of the triad, 55 had midline defects, 149 had optic nerve hypoplasia and 132 had hypopituitarism. Eighty-eight children (52% males; incidence 8.3/100,000 live births) had SOD defined as 2 out of 3 features and 21 (24%) had all 3. Sixty-one percent had anterior pituitary deficiency and 21.5% had diabetes insipidus. Median maternal/paternal ages in SOD were 21 and 23.5 years, compared to UK means of 29.3 and 32.4 years (p < 0.001). First trimester bleeding was markedly increased at 12/48 (25%) compared to 0.07% in the UK (p < 0.001). Ethnicity showed a non-significant higher prevalence in Afro-Caribbean and mixed race groups, and significantly lower prevalence (p = 0.004) in South Asian groups compared to West Midland and Birmingham city data: 8% versus 2.5 and 6.7%, 9% versus 1.8 and 3.2% and 3% versus 8.4 and 21%, respectively.

CONCLUSIONS

SOD is associated with younger maternal and paternal age, primigravida births and ethnic differences. Increased first trimester bleeding may indicate that SOD is a vascular disruption sequence.