Riley-Day Syndrome in a Hispanic Infant of Non-Jewish Ashkenazi Descent
نویسندگان
چکیده
منابع مشابه
The 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.
متن کاملCE in the Ashkenazi Jewish population
The MSH2*1906GRC mutation was recently shown to be a rare yet highly penetrant mutation leading to colorectal cancer. The mutation was only found among Ashkenazi Jewish individuals and lies on an extended haplotype that is common in that population. This study determined that the mutation probably arose between 11 and 22 generations ago, during the time when the Ashkenazim were living in easter...
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ژورنال
عنوان ژورنال: JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH
سال: 2017
ISSN: 2249-782X
DOI: 10.7860/jcdr/2017/25584.10152