Ehlers-Danlos Syndrome Type VII: Clinical Features and Molecular Defects* by CECILIA GIUNTA, ANDREA...

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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

Fig. 1 Case 1.

CECILIA GIUNTA et al. J Bone Joint Surg Am 1999;81:225-238

Figs. 2-A through 2-E: Case 2.

Fig. 2-B Photograph showing hyperextensibility of the finger joints.

Fig. 2-C Lateral radiograph of the knee, showing posterior subluxation of the tibia on the femur.

Fig. 2-D Anteroposterior radiograph showing bilateral subluxation of the hip.

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.

Fig. 3 Case 2.

Fig. 4 Images showing the nucleotide sequence of normal and mutant alleles obtained by Amplification Refractory Mutation System (ARMS) polymerase chain reaction.

Fig. 5 Schematic representations depicting the pathogenesis of type-VIIB Ehlers-Danlos syndrome.

Ehlers-Danlos Syndrome Type VII: Clinical Features and Molecular Defects* by CECILIA GIUNTA, ANDREA...

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