单词 | werdnig–hoffmann |
释义 | Werdnig–Hoffmannn. Pathology. Used in the possessive and attributively to designate a fatal familial disease that is present at birth or develops soon afterwards and is characterized by muscular atrophy, paralysis, and loss of sucking ability. ΘΚΠ the world > health and disease > ill health > a disease > congenital or hereditary syndromes > [noun] amyelia1865 amelia1872 congenital myotonia1886 myotonia congenita1887 Thomsen's disease1890 von Recklinghausen's disease1899 pseudoxanthoma1900 Werdnig–Hoffmann1903 myotonia atrophica1908 Fröhlich1909 Milroy's disease1909 Lindau disease1928 Steinert's disease1932 von Hippel–Lindau disease1932 Werner's syndrome1934 Sturge–Weber syndrome1935 gargoylism1936 Morgagni's syndrome1936 Hurler's disease1937 von Willebrand1941 Turner1942 autism1944 hypophosphatasia1948 Klinefelter1950 mucopolysaccharidosis1952 progeria1957 Pendred1960 Down's syndrome1961 Patau's syndrome1961 Marinesco–Sjögren syndrome1962 cri du chat syndrome1964 Prader–Willi syndrome1964 Noonan syndrome1965 Lesch-Nyhan syndrome1966 Wernicke–Korsakoff1966 Down1967 mannosidosis1969 mucolipidosis1970 Asperger's syndrome1971 Angelman syndrome1972 adrenoleukodystrophy1973 SCID1973 severe combined immune deficiency1973 Miller–Dieker syndrome1980 Asperger1988 Asperger's disorder1994 1903 Trans. Clin. Soc. 36 226 (heading) Three cases of family progressive spinal muscular atrophy (Werdnig–Hoffmann [sic] type). 1920 Brain 43 170 The case was scarcely one of amyotonia congenita, but rather was related to Werdnig–Hoffmann's progressive muscular atrophy, in spite of there being no obvious element of heredity. 1978 Arch. Dis. Childhood LIII. 921/1 Werdnig–Hoffmann disease—the acute severe infantile form of spinal muscular atrophy—often presents in the neonatal period with profound weakness. This entry has not yet been fully updated (first published 1986; most recently modified version published online September 2019). < n.1903 |
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