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.
D000015:Abnormalities, Multiple / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000235:genetics* / Q000601:surgery; D002574:Cervical Vertebrae / Q000002:abnormalities* / Q000601:surgery; D002648:Child; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007621:Karyotyping; D012886:Skull / Q000002:abnormalities*; D013117:Spinal Cord Compression / Q000601:surgery; D013123:Spinal Fusion