ehlers-danlos syndrome type vii: clinical features and molecular defects* by cecilia giunta, andrea...
TRANSCRIPT
![Page 1: Ehlers-Danlos Syndrome Type VII: Clinical Features and Molecular Defects* by CECILIA GIUNTA, ANDREA SUPERTI-FURGA, STEPHANIE SPRANGER, WILLIAM G. COLE,](https://reader035.vdocuments.us/reader035/viewer/2022070401/56649f1d5503460f94c3424d/html5/thumbnails/1.jpg)
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.
![Page 2: Ehlers-Danlos Syndrome Type VII: Clinical Features and Molecular Defects* by CECILIA GIUNTA, ANDREA SUPERTI-FURGA, STEPHANIE SPRANGER, WILLIAM G. COLE,](https://reader035.vdocuments.us/reader035/viewer/2022070401/56649f1d5503460f94c3424d/html5/thumbnails/2.jpg)
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.
![Page 3: Ehlers-Danlos Syndrome Type VII: Clinical Features and Molecular Defects* by CECILIA GIUNTA, ANDREA SUPERTI-FURGA, STEPHANIE SPRANGER, WILLIAM G. COLE,](https://reader035.vdocuments.us/reader035/viewer/2022070401/56649f1d5503460f94c3424d/html5/thumbnails/3.jpg)
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.
![Page 4: Ehlers-Danlos Syndrome Type VII: Clinical Features and Molecular Defects* by CECILIA GIUNTA, ANDREA SUPERTI-FURGA, STEPHANIE SPRANGER, WILLIAM G. COLE,](https://reader035.vdocuments.us/reader035/viewer/2022070401/56649f1d5503460f94c3424d/html5/thumbnails/4.jpg)
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.
![Page 5: Ehlers-Danlos Syndrome Type VII: Clinical Features and Molecular Defects* by CECILIA GIUNTA, ANDREA SUPERTI-FURGA, STEPHANIE SPRANGER, WILLIAM G. COLE,](https://reader035.vdocuments.us/reader035/viewer/2022070401/56649f1d5503460f94c3424d/html5/thumbnails/5.jpg)
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.
![Page 6: Ehlers-Danlos Syndrome Type VII: Clinical Features and Molecular Defects* by CECILIA GIUNTA, ANDREA SUPERTI-FURGA, STEPHANIE SPRANGER, WILLIAM G. COLE,](https://reader035.vdocuments.us/reader035/viewer/2022070401/56649f1d5503460f94c3424d/html5/thumbnails/6.jpg)
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.
![Page 7: Ehlers-Danlos Syndrome Type VII: Clinical Features and Molecular Defects* by CECILIA GIUNTA, ANDREA SUPERTI-FURGA, STEPHANIE SPRANGER, WILLIAM G. COLE,](https://reader035.vdocuments.us/reader035/viewer/2022070401/56649f1d5503460f94c3424d/html5/thumbnails/7.jpg)
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.
![Page 8: Ehlers-Danlos Syndrome Type VII: Clinical Features and Molecular Defects* by CECILIA GIUNTA, ANDREA SUPERTI-FURGA, STEPHANIE SPRANGER, WILLIAM G. COLE,](https://reader035.vdocuments.us/reader035/viewer/2022070401/56649f1d5503460f94c3424d/html5/thumbnails/8.jpg)
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.
![Page 9: Ehlers-Danlos Syndrome Type VII: Clinical Features and Molecular Defects* by CECILIA GIUNTA, ANDREA SUPERTI-FURGA, STEPHANIE SPRANGER, WILLIAM G. COLE,](https://reader035.vdocuments.us/reader035/viewer/2022070401/56649f1d5503460f94c3424d/html5/thumbnails/9.jpg)
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.
![Page 10: Ehlers-Danlos Syndrome Type VII: Clinical Features and Molecular Defects* by CECILIA GIUNTA, ANDREA SUPERTI-FURGA, STEPHANIE SPRANGER, WILLIAM G. COLE,](https://reader035.vdocuments.us/reader035/viewer/2022070401/56649f1d5503460f94c3424d/html5/thumbnails/10.jpg)
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.