ehlers-danlos syndrome type vii: clinical features and molecular defects* by cecilia giunta, andrea...
TRANSCRIPT
Ehlers-Danlos Syndrome Type VII: Clinical Features and Molecular Defects*
by CECILIA GIUNTA, ANDREA SUPERTI-FURGA, STEPHANIE SPRANGER, WILLIAM G. COLE, and BEAT STEINMANN
J Bone Joint Surg AmVolume 81(2):225-238
February 1, 1999
©1999 by The Journal of Bone and Joint Surgery, Inc.
Fig. 1 Case 1.
CECILIA GIUNTA et al. J Bone Joint Surg Am 1999;81:225-238
©1999 by The Journal of Bone and Joint Surgery, Inc.
Figs. 2-A through 2-E: Case 2.
CECILIA GIUNTA et al. J Bone Joint Surg Am 1999;81:225-238
©1999 by The Journal of Bone and Joint Surgery, Inc.
Fig. 2-B Photograph showing hyperextensibility of the finger joints.
CECILIA GIUNTA et al. J Bone Joint Surg Am 1999;81:225-238
©1999 by The Journal of Bone and Joint Surgery, Inc.
Fig. 2-C Lateral radiograph of the knee, showing posterior subluxation of the tibia on the femur.
CECILIA GIUNTA et al. J Bone Joint Surg Am 1999;81:225-238
©1999 by The Journal of Bone and Joint Surgery, Inc.
Fig. 2-D Anteroposterior radiograph showing bilateral subluxation of the hip.
CECILIA GIUNTA et al. J Bone Joint Surg Am 1999;81:225-238
©1999 by The Journal of Bone and Joint Surgery, Inc.
Fig. 2-E Lateral radiograph of the skull, showing wormian bones (arrow) near the occipital suture, a large open anterior fontanelle, and thickening of the calvaria, which had a pumice-like
appearance.
CECILIA GIUNTA et al. J Bone Joint Surg Am 1999;81:225-238
©1999 by The Journal of Bone and Joint Surgery, Inc.
Fig. 3 Case 2.
CECILIA GIUNTA et al. J Bone Joint Surg Am 1999;81:225-238
©1999 by The Journal of Bone and Joint Surgery, Inc.
Fig. 4 Images showing the nucleotide sequence of normal and mutant alleles obtained by Amplification Refractory Mutation System (ARMS) polymerase chain reaction.
CECILIA GIUNTA et al. J Bone Joint Surg Am 1999;81:225-238
©1999 by The Journal of Bone and Joint Surgery, Inc.
Fig. 5 Schematic representations depicting the pathogenesis of type-VIIB Ehlers-Danlos syndrome.
CECILIA GIUNTA et al. J Bone Joint Surg Am 1999;81:225-238
©1999 by The Journal of Bone and Joint Surgery, Inc.