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

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

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 0/1a 0/1 NME a
France 1969 Autopsy 2/2 NME 2/2 2/2c 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 2/2b
  1. Data are presented as “number of affected cases/number of total investigated cases”
  2. CT = computed tomography, MRI = magnetic resonance imaging, NME = no explicitly mentioned
  3. aInvolved by tumor invasion
  4. bHistological changes
  5. cNot severe gyral abnormalities but histological signs of malformation of cortical development
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