Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome

Table 1 Frequency of brain disorders in reported cases with deep brain investigations

Reference	Method	Microcephaly/Microencephaly	Cerebral or lobar atrophy	Brain stem size reduction	Malformation cortical development	Corpus callosum anomalies	Ventricles dilatation	Cerebellar anomalies	Cisterna magna enlargement	Pituitary
Roshan Lal 2016	MRI	4/15	6/15	3/15	1/15	3/15	3/15	5/15	5/15	4/15
Whitehead 2015	MRI and/or CT	6/7	6/8	5/7	5/8	NME	NME	6/8	NME	0/8
Lalatta 2007	MRI	1/2	1/2	0/2	0/2	1/2	0/2	1/2	0/2	0/2
Vuilleumier 2002	Autopsy	1/1	1/1	0/1	1/1	NME	0/1	0/1	0/1	0/1
Yamaguchi 1999	Autopsy	1/1	1/1	1/1	1/1	NME	NME	1/1	NME	NME
Sasaki 1996	Autopsy	1/1	1/1	1/1	1/1	NME	1/1	NME	NME	NME
Hayashi 1996	Autopsy	NME	NME	1/1	1/1	1/1	1/1	1/1	1/1	1/1
Sato 1986	Autopsy	1/1	1/1	0/1	1/1	^a	0/1^a	0/1	NME	^a
France 1969	Autopsy	2/2	NME	2/2	2/2^c	NME	1/2	1/2	NME	1/2
Mc Artur 1967	Autopsy	1/1	1/1	NME	0/1	NME	NME	0/1	NME	0/1
Hart 1965	Autopsy	1/1	NME	1/1	1/1	NME	NME	NME	NME	1/1
Schlesinger 1963	Autopsy	2/2	2/2	NME	2/2	NME	NME	NME	NME	2/2^b

Data are presented as “number of affected cases/number of total investigated cases”
CT = computed tomography, MRI = magnetic resonance imaging, NME = no explicitly mentioned
^aInvolved by tumor invasion
^bHistological changes
^cNot severe gyral abnormalities but histological signs of malformation of cortical development

ISSN: 1750-1172