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. 2023 Aug 16;60(12):1224–1234. doi: 10.1136/jmg-2023-109141

Table 1.

In-depth overview of intracranial features of the study cohort based on available imaging

Feature Participants, n/n evaluated (%)
Incomplete hippocampal inversion 26/41 (63.4)
 Bilateral 19/41 (46.3)
 Monolateral 7/41 (17.1)
Posterior fossa malformations* 29/44 (65.9)
 Large cisterna magna 25/44 (56.8)
 Dandy-Walker continuum 1/44 (2.3)
Large cisterna magna with low attachment of tentorium and low torcula 2/44 (4.5)
Inferior cerebellar vermis hypoplasia 1/44 (2.3)
Lateral ventricle morphology abnormalities 15/41 (36.6)
Dilation of lateral ventricles 10/41 (24.4)
Dysmorphic atria 5/41 (12.2)
Temporal horn enlargement 4/41 (9.8)
Other ventricular dysmorphisms 5/41 (12.2)
Cysts* 5/44 (11.4)
Arachnoid cyst 4/44 (9.1)
Choroid plexus cyst 1/44 (2.3)
Subependymal cyst 1/44 (2.3)
Pars intermedia cyst 1/44 (2.3)
White matter abnormalities 8/41 (19.5)
Generalised reduction of white matter thickness 2/41 (4.9)
Peritrigonal reduction of white matter thickness 2/41 (4.9)
Localised signal alterations of white matter 4/41 (9.8)
Periventricular leukomalacia 1/41 (2.4)
Gliosis of the peritrigonal regions 1/41 (2.4)
Left cerebellar hemisphere porencephaly 1/41 (2.4)
Patulous internal auditory canal* 8/12 (66.7)†
Empty sella 4/39 (10.3)
Vascular abnormalities 3/6 (50.0)†
Other brain imaging abnormalities 11/41 (26.8)
Widened subarachnoid space 2/41 (4.9)
Dilation of perivascular space 3/41 (7.3)
Abnormal corpus callosum morphology 2/41 (4.9)
Olfactory nerve/bulb abnormalities 2/41 (4.9)
Ocular/optic nerve abnormalities 2/41 (4.9)
Dilation of Meckel’s cave 1/41 (2.4)
Agenesis of septum pellucidum 1/41 (2.4)
Lipoma tuber cinereum 1/41 (2.4)

*Evaluated on both MRI and CT scan.

†Unlikely to be representative of the entire population (sample size too small).