Ehlers-Danlos Syndrome (TYPEI) with Mental Retardation -an Unusual Association (Reports on Two Brothers)
نویسندگان
چکیده مقاله:
Ehlers Danlos syndrome (EDS) is an inherited connective tissue disease due to impaired collagen metabolism. Joint hypermobility and skin hyper extensibility are the major findings. Six types of EDS are recognized. Type I or Gravis type is characterized by skin hyperextensibility, joint hypermobility, skin splitting autosoml dominancy inheritance, preterm premature rupture of membrane (PPROM) and varicose vein. Mental retardation has not been reported in the literature. Two cases of unusual type 1 EDS with joint deformity and mental retardation will be reported in this article.
منابع مشابه
[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 کاملTwo cases of Ehlers-Danlos syndrome.
The Ehlers-Danlos syndrome is a congenital abnormality of the skin, of which the following may be considered the chief characteristics: (1) Abnormal friability of the skin and subcutaneous tissue; (2) loose and hyperelastic skin; (3) hyperextensibility of joints; (4) the presence of nodules of various types in the skin ; (5) well-marked epicanthic folds. The clinical picture is not invariably c...
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 کاملPatients with Ehlers Danlos syndrome and CRPS: a possible association?
Rare patients are left with chronic pain, vasodysregulation, and other symptoms that define complex regional pain syndrome (CRPS), after limb traumas. The predisposing factors are unknown. Genetic factors undoubtedly contribute, but have not yet been identified. We report four CRPS patients also diagnosed with the classical or hypermobility forms of Ehlers Danlos syndrome (EDS), inherited disor...
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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عنوان ژورنال
دوره 16 شماره 4
صفحات 286- 288
تاریخ انتشار 2018-12
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