Skip to main content

Table 1 Clinical pattern of septo-optic dysplasia

From: Septo-optic dysplasia with amniotic band syndrome sequence: a case report

FeaturesOur patientPalui 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)AfricanIndianOmaniItalianItalianAmerican
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 reportedNot reported
  Hypoplasia++
 Pituitary hormones      
  Normal++
  Low or absent+++++
Additional findings
 Limb defects+++
 Dysmorphic features (cleft palate, cleft lip, frontal bossing, macrocephaly, microcephaly, genital abnormalities)++