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

Table 2 Infratentorial neuroimaging findings in 15 patients with OFD VI

Cerebellar and brainstem neuroimaging findings			Patients (%)
Posterior fossa	Size	Enlarged	10 (67%)
	Retrocerebellar fluid	Marked	7 (47%)
	Prepontine cistern	Enlarged	4 (27%)
	Foramen magnum cephalocele		2 (13%)
Cerebellar hemispheres	Size	Reduced	6 (40%)
		Enlarged	0 (0%)
	Morphology	Folial disorganization	8 (53%)
	Interhemispheric cleft	< 1 mm	8 (53%)
		1-2 mm	4 (27%)
		> 2 mm	3 (20%)
Superior cerebellar peduncles	Width	Minimally thickened	4 (27%)
		Obviously thickened	11 (73%)
	Length	Very elongated	1 (7%)
	Axial orientation	Parallel	10 (67%)
		A-like	2 (13%)
		V-like	0 (0%)
		Curved	3 (20%)
	Sagittal orientation	Horizontal	7 (47%)
		Ascending	8 (53%)
	Morphology	Irregular contour	1 (7%)
Ponto-mesencephalic isthmus	Interpeduncular fossa	Obviously deepened	14 (93%)
		Minimally deepened	1 (7%)
	Interpeduncular heterotopia		2 (13%)
Cerebral peduncles	Tooth-crown	Asymmetric	3 (20%)
Mesencephalon	Morphology	Dysmorphic	2 (13%)
	Length	Shortened	0 (0%)
		Elongated	2 (13%)
	Width	Thinned	3 (20%)
		Thickened	4 (27%)
	Tectum	Dysmorphic	10 (67%)
Pons	Width	Reduced	5 (33%)
		Enlarged	0 (0%)
Medulla	Morphology	Dysmorphic	1 (7%)
	Width	Reduced	0 (0%)
		Enlarged	1 (7%)

ISSN: 1750-1172