Skip to main content Accessibility help
×
Home

Ehlers-Danlos syndrome

  • L. Capotorti (a1) and M. Antonelli (a1)

Summary

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.

    • Send article to Kindle

      To send this article to your Kindle, first ensure no-reply@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about sending to your Kindle. Find out more about sending to your Kindle.

      Note you can select to send to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be sent to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

      Find out more about the Kindle Personal Document Service.

      Ehlers-Danlos syndrome
      Available formats
      ×

      Send article to Dropbox

      To send this article to your Dropbox account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Dropbox.

      Ehlers-Danlos syndrome
      Available formats
      ×

      Send article to Google Drive

      To send this article to your Google Drive account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Google Drive.

      Ehlers-Danlos syndrome
      Available formats
      ×

Copyright

References

Hide All
Agostini, A. (1938). Su di un caso di sindrome di Ehlers-Danlos. Studio clinico ed istologico. Il Dermosifilografo, 13: 611.
Agostini, A. (1941). A proposito delle « forme fruste » e delle « forme parziali » della sindrome di Ehlers-Danlos. G. Ital. Derm., 82: 341.
Benvenuto, E., Buffoni, L. (1956). Le forme incomplete della sindrome di Ehlers-Danlos. Minerva Pediat., 8: 1603.
Bertolotti, E., Vignolo, L. (1962). Su di un caso di forma incompleta di sindrome di Ehlers-Danlos. Minerva Pediat., 14: 1149.
Biering, A., Iverson, T. (1955). Osteogenesis imperfecta associated with Ehlers-Danlos syndrome. Acta Paediat., 44: 279.
Bossu, A., Lambrechts, . (1954). Manifestations oculaires du syndrome d'Ehlers-Danlos. Ann. Oculist., 187: 227.
Brombart, M. et al. (1952). Contribution à l'étude de l'etiologie de la hernie hiatale et de la diverticulose du tube digestif; un cas de maladie d'Ehlers-Danlos associée à une hernie hiatale, un diverticule de l'estomac, un diverticule duodénal, une diverticulose colique et une anémie sidéropénique. Arch. Mal. Appar. Dig., 41: 413.
Brown, A., Stock, V. F. (1937). Dermatorrhexis; report of a case. Amer. J. Dis. Child., 54: 956.
Carter, P. K., Walford, R. L. (1963). Serum elastase inhibitor levels in Ehlers-Danlos syndrome. Ann. Rheum. Dis., 22: 198.
Coe, M., Silvers, S. H. (1940). Ehlers-Danlos syndrome (Cutis hyperelastica). Amer. J. Dis. Child., 59: 129.
Gottini, G. B. (1940). Sindrome di Ehlers-Danlos clinicamente frusta e istologicamente completa. Gazz. Osped. Clin., 10: 230.
Coventry, M. B. (1961). Some skeletal changes in the Ehlers-Danlos syndrome. J. Bone Joint Surg., 43-A: 852.
Durham, D. G. (1953). Cutis hyperelastica (Ehlers-Danlos syndrome) with blue scleras, microcornea and glaucoma. Arch. Ophtalm., 49: 220.
Freeman, J. T. (1950). Ehlers-Danlos syndrome. Amer. J. Dis. Child., 79: 1049.
Goodman, R. M. et al. (1965). Ehlers-Danlos syndrome occurring together with the Marfan syndrome. Report of a case with other family members affected. New Engl. J. Med., 273: 514.
Hall, D. A. et al. (1955). Collagen and elastin in connective tissue. J. Geront., 10: 388.
Hass, L., Hass, R. (1958). Arthrocalasis multiplex congenita. J. Bone Joint Surg. 40-A: 663.
Jansen, L. H. (1955). The structure of the connective tissue, an explanation of the symptoms of the Ehlers-Danlos syndrome. Dermatologica, 110: 108.
Jansen, L. H. (1955). Le mode de transmission de la maladie d'Ehlers-Danlos. J. Genet. Hum., 4: 204.
Johnson, S. A. M., Falls, H. F. (1949). Ehlers-Danlos syndrome. A clinical and genetic study. Arch. Derm. 60: 82.
Katz, I., Steiner, F. (1955). Ehlers-Danlos syndrome with ectopic bone formation. Radiology, 65: 352.
Leigheb, V. (1942). Contributo allo studio della sindrome di Ehlers-Danlos. G. Ital. Derm., 83: 529.
MagFarlane, I. L. (1959). Ehlers-Danlos syndrome presenting certain unusual features. J. Bone Joint Surg., 41-B: 541.
MgKusigk, V. A. (1960). Heritable Disorders of Connective Tissue. II Ed., Mosby, St. Louis.
Monticelli, G., Maiotti, A. (1954). Su di una particolare forma di osteocondro-distrofia con iperdistensibilità cutanea ed iperelasticità legamentosa. Ortop. Traum. App. Mot., 22: 213.
Mounier-Kuhn, P., Meyer, L. (1943). Méga-organes (œsophage, trachée, colon), syndromes de Mickulicz et d'Ehlers-Danlos chez un hérédo-syphilitique. Bull. Mem. Soc. Med. Hop., Lyon.
Nordio, S., Mantovani, V. (1956). Le sindromi di Ehlers-Danlos e di Brailsford-Morquio: loro rapporti no-sologici. Minerva Pediat., 8: 1316.
Paghioli, R. et al. (1964). Una complessa associazione morbosa: sindrome di Ehlers-Danlos, osteogenesi imperfetta e cerebropatia. Acta Paediat. Lat., 17: 537.
Pancino, N., Maiotti, A. (1957). Contributo alla conoscenza della cosiddetta malattia di Morquio. Ortop. Traumo App. Mot., 25: 233.
Pittinos, G. E. (1941). Ehlers-Danlos syndrome with disturbance of creatine metabolism. J. Pediat., 19: 85.
Quintarelli, G. (1965). La sostanza fondamentale (S. F.) del tessuto connettivo. Gazz. Sanit., 36: 389.
Roederer, G. (1951). Syndrome d'Ehlers-Danlos atypique coïncidant avec une dolicosténomélie. Arch. Franc. Pediat., 8: 192.
Ronchese, F. (1951). Dermatorrhexis, with dermatochalasis and arthrocalasis (so called Ehlers-Danlos syndrome). Amer. J. Dis. Child., 51: 1403.
Rossi, E., Angst, H. (1951). Das Danlos-Ehlers Syndrome. Helv. Paediat. Acta, 6: 245.
Schaper, G. (1952). Familiares Vorkommen von Ehlers-Danlos Syndrome; ein Beitrag zur Klinik und Pathogenese. Z. Kinderheilk, 70: 504.
Scolari, E. S. (1937). La sindrome di Ehlers-Danlos. Istologia dei c. d. pseudo tumori molluscoidi. G. Ital. Derm., 78: 577.
Thomas, G. et al. (1954). Les altérations oculaires de la maladie d'Ehlers-Danlos. Arch. Ophtal., 14: 691.
Toscano, F. (1950). Sindrome di Ehlers-Danlos. Contributo casistico. Minerva Pediat., 2: 497.
Weber, F. P., Aitken, J.K. (1938). Nature of the subcutaneous spherules in some cases of Ehlers-Danlos syndrome, Lancet, 1: 198.
Wechsler, H. L., Fisher, E. R. (1964). Ehlers-Danlos syndrome. Pathological, histochemical and electro-microscopic observations. Arch. Pathol., 77: 613.

Ehlers-Danlos syndrome

  • L. Capotorti (a1) and M. Antonelli (a1)

Metrics

Full text views

Total number of HTML views: 0
Total number of PDF views: 0 *
Loading metrics...

Abstract views

Total abstract views: 0 *
Loading metrics...

* Views captured on Cambridge Core between <date>. This data will be updated every 24 hours.

Usage data cannot currently be displayed