PMC4169569_01
Clinical phenotypes in probands with Bruck syndrome.. For proband 1, (A)-(B) severe flexion deformity of knees (white arrows); (C) small joint laxity of hand and scar of orthopedic surgery for correcting thumb-in-palm deformity (white arrow). For proband 2, (D) left pes equinovarus and invisible right fourth toe because of camptodactyly (white arrow); (E) congenital joint contracture of right elbow and camptodactyly of right thumb (white arrows); (F) camptodactyly of fourth toes (white arrows); (G) mild camptodactyly of left 3-4th fingers and right thumb, 4-5 fingers (white arrows); (H) limited movement of knees and invisible right fourth toe from this view (white arrows); (I) severe ithyokyphosis.
pone.0107594.g001.jpg
PMC4169569_02_pone.0107594.g001.jpg
pone-0107594-g001
Camptodactyly was found at right thumb, fourth to fifth finger, left third to fourth fingers and fourth toes (Figure 1D-H). He had apparent kyphoscoliosis (Figure 1I).
Radiological findings in the two probands with Bruck syndrome.. For proband 1, (A) occipital wormian bone (white arrow); (B) scoliosis (black arrow) and thoracic cage collapse (white arrows); (C)-(D) slender femur with thin cortices (black arrow), metaphyseal enlargement of distal femur (white arrow) and old fracture (white arrow); (E) old fractures and bending of femora (black arrows), severe deformity of pelvis and osteoporosis. For proband 2, (F) occipital wormian bone (white arrow); (G) embedded fracture of right distal femur (white arrow); (H) multiple vertebral compression fractures (white arrows) and ithyokyphosis; (I) rotation kyphoscoliosis (white arrow), indistinct ribs and thoracic cage collapse; (J) severe deformity of pelvis and osteoporosis.
pone.0107594.g002.jpg
PMC4169569_02_pone.0107594.g002.jpg
pone-0107594-g002
The X-ray films also revealed severe generalized osteoporosis with wormian bone in cranium, multiple vertebral compression fractures with rotation kyphoscoliosis, collapsed right thoracic cage, deformity of pelvis, slender long bone with thin cortices (Figure 2F-J).
PMC4169569_02
Clinical phenotypes in probands with Bruck syndrome.. For proband 1, (A)-(B) severe flexion deformity of knees (white arrows); (C) small joint laxity of hand and scar of orthopedic surgery for correcting thumb-in-palm deformity (white arrow). For proband 2, (D) left pes equinovarus and invisible right fourth toe because of camptodactyly (white arrow); (E) congenital joint contracture of right elbow and camptodactyly of right thumb (white arrows); (F) camptodactyly of fourth toes (white arrows); (G) mild camptodactyly of left 3-4th fingers and right thumb, 4-5 fingers (white arrows); (H) limited movement of knees and invisible right fourth toe from this view (white arrows); (I) severe ithyokyphosis.
pone.0107594.g001.jpg
PMC4169569_02_pone.0107594.g001.jpg
pone-0107594-g001
Camptodactyly was found at right thumb, fourth to fifth finger, left third to fourth fingers and fourth toes (Figure 1D-H). He had apparent kyphoscoliosis (Figure 1I).
Radiological findings in the two probands with Bruck syndrome.. For proband 1, (A) occipital wormian bone (white arrow); (B) scoliosis (black arrow) and thoracic cage collapse (white arrows); (C)-(D) slender femur with thin cortices (black arrow), metaphyseal enlargement of distal femur (white arrow) and old fracture (white arrow); (E) old fractures and bending of femora (black arrows), severe deformity of pelvis and osteoporosis. For proband 2, (F) occipital wormian bone (white arrow); (G) embedded fracture of right distal femur (white arrow); (H) multiple vertebral compression fractures (white arrows) and ithyokyphosis; (I) rotation kyphoscoliosis (white arrow), indistinct ribs and thoracic cage collapse; (J) severe deformity of pelvis and osteoporosis.
pone.0107594.g002.jpg
PMC4169569_02_pone.0107594.g002.jpg
pone-0107594-g002
The X-ray films also revealed severe generalized osteoporosis with wormian bone in cranium, multiple vertebral compression fractures with rotation kyphoscoliosis, collapsed right thoracic cage, deformity of pelvis, slender long bone with thin cortices (Figure 2F-J).