Table 1.
Clinical pattern of septo-optic dysplasia
| Features | Our patient | Palui et al., 2018 [13] | Ganesh et al., 2013 [6] | Signorini et al., 2012 [5] | Polizzi et al., 2006 [7] | Stevens et al., 2004 [10] |
|---|---|---|---|---|---|---|
| Race (children) | African | Indian | Omani | Italian | Italian | American |
| Neurological | ||||||
| Midline defects | ||||||
| Septum pellucidum/corpus callosum | ||||||
| Normal | – | – | – | – | – | – |
| Absent/agenesis | + | + | + | + | + | – |
| Cerebral cortex | ||||||
| Normal | – | + | + | + | + | – |
| Polymicrogyria | – | – | – | + | – | + |
| Schizencephaly | – | – | – | + | – | – |
| Pachygyria | + | – | – | – | – | – |
| Other | ||||||
| Dysmorphic fornices | – | – | – | + | + | – |
| Ventricular abnormality | + | – | – | + | – | – |
| Cerebellar vermis hypoplasia | – | – | – | + | – | – |
| White matter abnormalities | – | – | – | – | – | – |
| Ocular | ||||||
| Optic nerve | ||||||
| Unilateral hypoplasia | + | – | + | – | – | – |
| Bilateral hypoplasia | – | + | + | + | + | + |
| Endocrine | ||||||
| Pituitary gland | ||||||
| Normal | + | – | – | – | – | Not reported |
| Absent | – | – | – | + | – | |
| Ectopic | – | + | + | – | + | |
| Pituitary stalk | ||||||
| Normal | – | + | – | + | Not reported | Not reported |
| Hypoplasia | + | – | + | – | ||
| Pituitary hormones | ||||||
| Normal | + | – | – | – | + | – |
| Low or absent | – | + | + | + | + | + |
| Additional findings | ||||||
| Limb defects | + | – | – | – | + | + |
| Dysmorphic features (cleft palate, cleft lip, frontal bossing, macrocephaly, microcephaly, genital abnormalities) | + | – | – | – | + | – |