Cervical spinal deformity in craniometaphyseal dysplasia.

A child with craniometaphyseal dysplasia had the presenting symptoms of progressive quadriparesis. She exhibited proportionate tall stature, peculiar face with craniomegaly, genu valgum, and 46,XX,t(12;18)(q13;q12) chromosome aberration. Delayed physical development and mild mental retardation were also present. Subluxation of C-2 on C-3 and kyphosis of the cervical spine, and myelographic blockage at this level were noted. Treatment consisted of fusion of the C-2 to C5-6 vertebra following laminectomies of C-3 and C-4 with satisfactory results. Early detection and surgery for cervical spine deformity and cord compression are necessary to prevent profound neurological deficits in this disorder.