Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.
نویسندگان
چکیده
منابع مشابه
Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.
Arthrogryposis multiplex congenita is a heterogeneous condition and many different types are clinically recognisable. Recently, a new type of autosomal dominant arthrogryposis was described in a father and son. We report on a male patient with similar clinical features, confirming this distinct type of arthrogryposis. The condition is characterised by congenital contractures of the hands and fe...
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چکیده ندارد.
A new form of autosomal dominant arthrogryposis.
We report a man and his son with congenital limb contractures, limitation of ocular movements, and an electroretinal abnormality. They appear to have an autosomal dominant form of arthrogryposis, distinguishable from other previously classified forms of this disorder.
متن کاملArthrogryposis accompanying congenital spinal-type muscular atrophy.
Arthrogryposis is a congenital condition in which multiple skeletal deformities of the extremities and spine are caused by fibrosis and contractures of skeletal muscles accompanying a neurogenic atrophy (Brandt, 1947; Kanof, Aronson, and Volk, 1956; Bargeton, Nezelof, Guran, and Job, 1961; Vestermark, 1966) or a primary myopathy (Thamdrup, 1955; Banker, Victor, and Adams, 1957) acquired in uter...
متن کاملArthrogryposis: a review and update.
C ongenital contractures can be divided into two groups: isolated contractures and multiple contractures (Fig. 1). Isolated congenital contractures affect only a single area of the body; the most common isolated contracture is congenital clubfoot, which occurs in one of every 500 live births. The term arthrogryposis is often used as shorthand to describe multiple congenital contractures that af...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1993
ISSN: 1468-6244
DOI: 10.1136/jmg.30.1.78