From: Septo-optic dysplasia with amniotic band syndrome sequence: a case report
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) | + | – | – | – | + | – |