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Table 3 Supratentorial neuroimaging findings in 15 patients with OFD VI

From: Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

Supratentorial neuroimaging findings

Patients (%)

Hippocampal malrotation

7 (47%)

Ventriculomegaly

6 (40%)

Callosal dysgenesis

4 (27%)

Fused thalami

4 (27%)

Hypothalamic hamartoma

4 (27%)

Absent septum pellucidum

3 (20%)

Polymicrogyria

3 (20%)

Schizencephaly

2 (13%)

Heterotopias (periventricular, subcortical)

1 (7%)

Occipital cephalocele

1 (7%)

White matter signal abnormality (diffuse or focal)

1 (7%)

Cavum Vergae

1 (7%)

Temporal lobe hypoplasia

1 (7%)

  1. OFD VI, Oral-Facial-Digital Syndrome type VI