Skip to main content

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
Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172