A new form of autosomal dominant arthrogryposis.
نویسندگان
چکیده
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.
منابع مشابه
Freeman-Sheldon syndrome: a functional and cosmetic correction of microstomia.
Freeman-Sheldon syndrome (FSS) is a rare form of multiple congenital contracture syndrome and is the most severe form of distal arthrogryposis. Described in 1938 by Freeman and Sheldon, it is also referred to as distal arthrogryposis type 2A, craniocarpotarsal dysplasia or whistling faceewindmill vane hand syndrome. Its main form of inheritance is autosomal dominant, but it can also be autosoma...
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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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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 28 10 شماره
صفحات -
تاریخ انتشار 1991