Figure 2.

Radiological Features of the Affected Individuals with Bi-allelic CSF1R Mutations

(A–H) Individual 1 (family A, III-1).

(A) Sagittal cranial CT at age 2 years displays multiple calcifications mainly in the pericallosal and periventricular areas and enlarged ventricles.

(B and C) Brain MRI at age 1 month shows agenesis of the corpus callosum, cerebellar hypoplasia, communication of the IV ventricle with enlarged posterior fossa.

(D–H) X-rays showing severe osteosclerosis.

(D) Lateral view of the skull showing sclerosis of the cranial base.

(E) The margins of the vertebral bodies and the neural arches of the thoracic spine are sclerotic. The vertebral bodies are mildly flat with anterior pointing of D12-L1.

(F) The right femur shows sclerosis of mid-diaphysis with wide, radiolucent ends (Erlenmeyer flask deformity).

(G) Pelvic bones and proximal femora show marked sclerosis.

(H) Under-modeling, sclerosis of mid-diaphysis, and sub-metaphyseal radiolucency similar to the long tubular bone are seen.

(I–P) Individual 2 (family B, II-2) at age 36 years.

(I) Sagittal CT image displays linear calcifications of corpus callosum and marked dilated ventricle.

(J) MRI-FLAIR weighted image shows confluent hyperintensities in periventricular white matter and malformation of frontal lobe.

(K) MRI-T1 weighted sagittal image shows hypogenesis of cerebral cortex and corpus callosum with enlarged ventricle.

(L–P) X-rays.

(L) Diffuse osteosclerosis in craniofacial bones, particularly in the skull base.

(M) The neural arches of the thoracolumbar spine are mildly sclerotic. The end plates of the vertebral bodies are sclerotic and concave at their posterior thirds.

(N) The femur is under-modeled with radiolucent ends and sclerotic diaphysis.

(O) Pelvic bones and proximal femora show sclerosis, most prominently in the femoral shafts and iliac bodies.

(P) The right hand. Under-modeling, sclerosis of mid-diaphysis, and sub-metaphyseal radiolucency.

(Q–X) Individual 3 (family C, III-4) age 14 years.

(Q) Brain CT. Multiple calcification in the corona radiata and corpus callosum. Enlargement of both lateral ventricles.

(R and S) Brain horizontal and sagittal MRIs. Enlargement of lateral ventricles and cisterna magna, and patchy hyperintensity signal in extensive area of white matter.

(T–X) X-rays showing similar but milder osteosclerosis than in individual 1 and 2.

(T) Skull. Mild sclerosis of the cranial base.

(U) Vertebral bodies are concaved at their posterior thirds with mild sclerosis of the end plates.

(V) Metaphyseal under-modeling and radiolucency in the tibia.

(W) Increased bone density of pelvic bones and proximal femora.

(X) The left hand. Under-modeling, sclerosis of mid-diaphysis, and sub-metaphyseal radiolucency.