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Table 1 Clinical pattern of septo-optic dysplasia

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)

+

–

–

–

+

–