Ehlers-Danlos syndrome

Author:

Capotorti L.,Antonelli M.

Abstract

SUMMARYThe 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.

Publisher

Cambridge University Press (CUP)

Reference40 articles.

1. Serum Elastase Inhibitor Levels in the Ehlers-Danlos Syndrome

2. Contributo allo studio della sindrome di Ehlers-Danlos;Leigheb;G. Ital. Derm.,1942

3. 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;Brombart;Arch. Mal. Appar. Dig.,1952

4. EHLERS-DANLOS SYNDROME

Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Serious ophthalmological complications in the Ehlers-Danlos syndrome.;British Journal of Ophthalmology;1970-04-01

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