Microcephaly With Cervical Spine Fusion Anomalies

Zackai et al. (1972) described brothers, from a consanguineous marriage, who had microcephaly, mild mental retardation, short stature, and skeletal anomalies. The facies were similar to those in Seckel syndrome. One brother had fusion C6-7 with instability at C2-3 producing spinal cord compression. The other brother had fusion at C2-3 and C7-T1.