Unusual cause of Charcot joints in early adolescence (Riley-Day syndrome).
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منابع مشابه
Unusual cause of Charcot joints in early adolescence (Riley-Day syndrome).
Familial dysautonomia, a disease almost completely confined to Ashkenazic Jews, was first described by Riley et al. (1949). Recently interest has been renewed in searches for the basic defect of this puzzling clinical picture, which as yet remains unknown (Dancis and Smith, 1966; Riley and Moore, 1966). It is known to be transmitted as an autosomal recessive trait, which suggests a single enzym...
متن کاملThe Riley-Day syndrome
Familial dysautonomia (Riley et al., 1949) is an autosomal recessive disease affecting Jews of Eastern European ancestry (Brunt and McKusick, 1970). As the name implies the autonomic nervous system is defective, and this is seen clinically as defective control of temperature, blood pressure, and swallowing, by skin blotching, excessive sweating, lack of tearing, and bowel disturbance. Abnormali...
متن کاملFamilial dysautonomia (Riley-Day syndrome).
Familial dysautonomia, also known as Riley-Day syndrome, is a disorder of autonomic nervous system with an autosomal recessive mode of inheritance. Reduction and/or loss of unmyelinated and small myelinated fibers is found, as reduction of dopamine beta-hydroxylase in blood. The diagnosis is based on clinical features: diminished lacrimation, insensitivity to pain, poor temperature control, abo...
متن کاملRiley-Day Syndrome (congenital familial dysautonomia).
THIS rare disease is of particular importance to ophthalmologists because of the congenital failure of tear production and corneal anaesthesia. It was first described as an entity by Riley, Day, Greeley, and Langford (1949). Since then, many further cases have been reported (Braun-Vallon and Bessman, 1960; Levin, 1960; Laxdal, Khera, and Haworth, 1961; Thieffry, Joseph, Martin, Job, and Lorthol...
متن کاملVestibular dysfunction in familial dysautonomia. The Riley-Day syndrome.
We report the bilateral absence of response to tests of vestibular function in 5 patients with familial dysautonomia.
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ژورنال
عنوان ژورنال: BMJ
سال: 1967
ISSN: 0959-8138,1468-5833
DOI: 10.1136/bmj.4.5574.277