Figure 1.

Identification of Two Families with Autosomal-Recessive KFS

(A) Pedigree of family 1 (red asterisks denote individuals whose DNA was available for analysis).

(B) Pedigree of family 2.

(C) Clinical photograph of the index individual in family 1; note a short neck and elevated scapulae.

(D) Clinical photograph of the index individual in family 2; note a short neck, a low posterior hair line, and elevated scapulae.

(E) Cervical-spine radiogram showing a segmentation defect.

(F) Computed-tomography image of the shoulder of the index individual in family 2. Note that the bilateral omovertebral bone (black arrow) is much more developed on the right, where it is fused with the right posterior segment of the C7 vertebral body.