Ehlers-Danlos syndrome versus cleidocranial dysplasia
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چکیده
منابع مشابه
Ehlers-Danlos syndrome versus cleidocranial dysplasia
Dear Sir, The early identification of hereditary syndromes is essential for planning medical and surgical interventions for reducing the risk of complications [1]. Unfortunately, clinical phenotypes of hereditary syndromes in the first years of life and in mild cases are often poorly characterized. Some disease symptoms are also common to several different genetic conditions. Cleidocranial dysp...
متن کامل[Ehlers-Danlos syndrome].
We have described a patient with type 4 Ehlers-Danlos syndrome who died of a ruptured pulmonary artery. Of the six subtypes of Ehlers-Danlos syndrome, which can usually be clinically differentiated, only types 1 and 4 appear to be associated with a substantial risk of arterial rupture.
متن کاملEhlers-Danlos syndrome.
Twenty patients with the Ehlers-Danlos syndrome, (10 type I, six type II, and four type IV) were studied to assess the frequency of respiratory abnormalities in this condition. Five patients (25%) had had at least one episode of haemoptysis, but none had any defect of coagulation. There was a high frequency of recurrent sinusitis, notably in those with the type I syndrome. Two patients had bull...
متن کاملEhlers-Danlos syndrome.
448 BMJ | 1 SEPTEMBER 2007 | VoluME 335 hinder implementation of these recommendations. Recognising the condition and the impact it can have on the lives of patients and their families is therefore a necessary preliminary to improving care. • People with severe CFS/ME who are housebound or need prolonged bed rest require specialised care, but evidence is lacking about which treatments are most ...
متن کامل[Ehlers-Danlos syndrome].
The Ehlers-Danlos syndrome (EDS) comprises a heterogenous group of nine hereditary connective tissue disorders, characterized by hyperelasticity of skin and hypermobility of joints to differing extents. The skin is easily injured and wound healing is delayed. The majority of EDS patients belong to EDS-types I-III. The pathogenesis in these cases is not known, although recent data suggest a role...
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ژورنال
عنوان ژورنال: Italian Journal of Pediatrics
سال: 2014
ISSN: 1824-7288
DOI: 10.1186/1824-7288-40-49