Figure 1.

Phenotypic features and bone radiographs of three patients with NBAS mutations. (A–F) Frontal and side views of facial appearance of Patients 1, 2, and 3 at ages 13, 6, and 5, respectively. Note short neck and similar facial dysmorphism, including senile face, bilateral exophthalmos, low-set ears, narrow forehead, pointed chin, and small mouth with thin lips. (G–I) Brachydactyly and small hands of Patients 1, 2, and 3. (J, K) (J) X-ray of lower extremities of Patient 1 showing severe osteoporosis, gracile bones, signs of multiple fractures with non-union, and “popcorn” epiphyses; (K) X-ray of Patient 2 demonstrating mild osteoporosis with no axial deformities.