Table 1 Summary of callosal malformations in selected developmental conditions for which diagnosis includes known genetic anomalies or prenatal incidents

NF1

Enlarged area (Kayl et al. 2000; Margariti et al. 2007; Dubovsky et al. 2001); reduced FA and elevated average diffusion coefficient (Zamboni et al. 2007)

Rostral body area enlarged (Kayl et al. 2000)

Anterior and posterior midbody area enlarged (Kayl et al. 2000)

No significant findings

CC size was inversely correlated with viusual-spatial skills, motor skills, academic achievement (Moore et al. 2000); CC enlargement correlates positively with better attention (Kayl et al. 2000)

Fragile X

No CC involvement

No CC involvement

No CC involvement

No CC involvement

Not applicable

Turner syndrome

Case reports involving callosal dysgenesis (Kimura et al. 1990; Abd et al. 1997; Araki et al. 1987; Hori 1996)

Small genu area in children and teens (Fryer et al. 2003); enlarged genu area in adults (Cutter et al. 2006)

No sigificant findings

Small splenium area in adults (Cutter et al. 2006)

No information available

22qDS

Enlarged area (Shashi et al. 2004; Machado et al. 2007; van Amelsvoort et al. 2001)

Longer and larger rostrum and small genu area in children (Machado et al. 2007); reduced bilateral genu volume (Sundram et al. 2010)

Reduced bilateral volume (Sundram et al. 2010)

Enlarged splenium area in adults (van Amelsvoort et al. 2001); elevated FA in splenium of both children and young adults (Barnea-Goraly et al. 2003; Machado et al. 2007); reduced splenium volume in children to early adults (Sundram et al. 2010)

On enumeration and subitizing tests, genu area correlated with faster performance and area of select regions in posterior midbody and splenium was negatively correlated with performance speed (Machado et al. 2007)

Williams syndrome

Less concave in shape (Tomaiuolo et al. 2002; Gothelf et al. 2008; Luders et al. 2007)

No significant findings

Small area in caudal region of the callosal body (Tomaiuolo et al. 2002)

Smal area of isthmus and splenium (Luders et al. 2007; Tomaiuolo et al. 2002; Schmitt et al. 2001; Chiang et al. 2007)

Subtle loss of interhemispheric connectivity and elevated intrahemispheric connections; IHT does not improve with age (Santos et al. 2007); after age 30 years, PIQ positively correlated with genu and splenium area (Chiang et al. 2007)

Preterm birth

Reduced area across all regions at 8 years old (Peterson et al. 2000) and in adolescence (Nosarti et al. 2004)

Low FA in genu of infants (Anjari et al. 2007) and at 8 years old (Peterson et al. 2000); enlarged genu relative to total CC area by ages 14–15 years (Nosarti et al. 2004)

Small posterior body area in infants (Counsell et al. 2008b; Peterson et al. 2000; Rademaker et al. 2004; Cooke and Abernethy 1999); low FA in CC body of infants born at <28 PCW (Anjari et al. 2007)

Small splenium area relative to total CC area in 14–15-year olds (Nosarti et al. 2004); low FA in splenium of infants with diffuse excessive high signal intensity (Counsell et al. 2006); low FA in isthmus of infants born at <28 PCW (Anjari et al. 2007)

In 2-year olds, FA of CC body and isthmus area correlated positively with developmental quotient and eye-hand coordination (Counsell et al. 2008b). In adolescents, CC area correlated positively w/VIQ, PIQ, and visuomtor integration (Peterson et al. 2000); in adolescents, bilateral-visual field matching was slowed with an atypical bilateral disadvantage—fMRI during this task revealed areas of compensatory activation in DLPFC (Santhouse et al. 2002)

FAS

6.8% incidence of callosal agenesis (Riley et al. 1995); reduced FA in the CC overall (Sowell et al. 2008)

Reduced area (Riley et al. 1995; Sowell et al. 2001)

Reduced

FA in posterior midbody (Wozniak et al. 2009)

Reduced area (Riley et al. 1995; Sowell et al. 2001); reduced FA in the isthmus (Wozniak et al. 2009) and splenium (Sowell et al. 2008; Wozniak et al. 2009); posterior CC is displaced more anteriorly and inferiorly (Sowell et al. 2001)

White matter integrity of posterior CC is positively correlated with visual-motor integration performance in FASD groups (Sowell et al. 2008; Wozniak et al. 2009).