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Ehlers-Danlos syndrome

Published online by Cambridge University Press:  01 August 2014

L. Capotorti  and
M. Antonelli
L. Capotorti
Affiliation:
Clinica Pediatrica dell'Università di Roma, (Italia)
M. Antonelli
Affiliation:
Clinica Pediatrica dell'Università di Roma, (Italia)

Summary

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The Authors describe a pedigree including four certain and two probable cases of «Ehlers-Danlos syndrome ». All the affected subjects were born to consanguineous but apparently healthy parents. Of the three main symptoms of the syndrome, the patients presented hyperelasticity of the skin and hyperlaxity of the joints and of the ligaments, while the signs of cutaneous fragility were absent (« partial form » of E.-D. syndrome). In the first two cases it was possible to find some less common aspects of the E.-D. syndrome, such as ectasia of the trachea and of the main bronchi, anomalies regarding the eyes, the teeth and the nails, muscular hypotonia and hypotrophia, and particularly some skeletal manifestations (bending of the long bones, osteoporosis, anomalies of the methaphysis and epiphysis of the tubular bones, vertebral, thoracic and pelvic deformations).

The Authors emphasize the importance of these less common aspects of the E.-D. syndrome, and the similarity between these clinical signs and those found in other « heritable disorders of the connective tissue ».

The type of inheritance in this family (autosomal recessive) is discussed, in comparison to the commoner type (autosomal dominant) of inheritance of the E.-D. syndrome.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 15 , Issue 3 , July 1966 , pp. 273 - 295
Copyright
Copyright © The International Society for Twin Studies 1966

References

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