Clinical and Radiological Phenotype of Individuals with ZIC1 Mutations
(A) Subject 1, age 7 weeks (left) and 8 years (right).
(B) Subject 2, age 23 years.
(C) Subject 3, age 5 months.
(D) CT head scan of subject 3 (age 5 months) showing bicoronal synostosis, a large wormian bone (arrow) in the position of the anterior fontanelle, and an ossification defect in the sagittal suture (arrowhead).
(E) Subject 4, age 7 months.
(F) CT head scan of subject 4 (age 2.5 months). Note asymmetric skull shape associated with bilateral coronal and right lambdoid suture fusion (arrow). Sections of the metopic and sagittal sutures remain widely patent (arrowheads).
(G) MRI brain scan (T2 image) of subject 4, age 16 months. Note short, broad corpus callosum, peaked tentorium cerebelli (arrow), and hypoplasia of the pons (arrowhead), cerebellar vermis, and cerebellar hemispheres.
(H) Pedigree of family 5.
(I) Subject 5:III.6, age 2 months.
(J) MRI brain scan (T2 image) of subject 5:III.6, age 13 years. Abnormal features show a similar pattern to those present in subject 4.