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[Ullrich’s disease is a congenital muscular dystrophy, first described in 1930, and also known as hypotonic-sclerotic muscular dystrophy. It is characterized by generalized muscle weakness and wasting, contractures of proximal joints, hyperflexibility of distal joints, and a progressive course....
[This autosomal recessive syndrome of osteosclerosis affects the ribs, clavicles, long bones, and pelvis as well as the skull (cf. hyperostosis cranialis interna), causing a prominent jaw and hypertelorism. About half of cases develop involvement of the facial (VII) and vestibulocochlear (VIII)...
[Wartenberg’s neuropathy is a rare disorder characterized by recurrent attacks of pain followed by sensory loss in the distribution of various cutaneous sensory nerves (hence “migrant”), with resolution of symptoms over a period of weeks. Onset is usually in the fourth or fifth decade. This may...
[Xeroderma pigmentosum (XP) is a rare, heterogeneous, group of autosomal recessive disorders characterized by cutaneous lesions in childhood (dermatitis, skin cancer) due to the inability to repair DNA damaged by ultraviolet (UV) radiation (i.e., hypersensitivity to UV radiation). Various...
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