Miller–Dieker syndromen.

Brit.

/ˌmɪləˈdiːkə ˌsɪndrəʊm/, U.S.

/ˌmɪlərˈdikər ˌsɪndroʊm/

Origin: From proper names, combined with an English element. Etymons: proper names Miller , Dieker , syndrome n.

Etymology: < the names of James Q. Miller (1926–2005), U.S. physician, and Hans Jochen Dieker (1941–73), German physician + syndrome n.Miller and Dieker separately described patients with symptoms of this syndrome in Neurology (1963) 13 841 and in D. Bergsma First Conf. Clin. Delineation of Birth Defects (1969) 53 respectively.

Medicine.

A syndrome comprising congenital malformations of the face, brain (absence of cerebral gyri), and various other organs, leading to severe neurological abnormalities and failure of growth and development, associated with abnormalities of chromosome 17.

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

1980 K. L. Jones et al. in Pediatrics 66 277 In 1963 Miller described a malformation syndrome in a brother and sister with postnatal growth deficiency... Autopsy..revealed lissencephaly. Subsequently, Dieker et al reported four additional patients with this disorder..and referred to it as ‘lissencephaly syndrome’... Other phenotypic features, such as the growth, craniofacial, and neurologic abnormalities are more helpful in diagnosing this disorder, which we refer to as the Miller–Dieker syndrome.

1990 Lancet 27 Oct. 1035/1 In the Miller-Dieker syndrome seizures, often infantile spasms, almost invariably start in the first 6 months of life.

1995 Nature 6 Apr. 501/3 This gene..is defective in Miller–Dieker syndrome, a neurological disorder characterized by the absence of gyri and sulci in the cerebral cortex (lissencephaly).

This is a new entry (OED Third Edition, March 2002; most recently modified version published online March 2022).

单词	miller–dieker syndrome
释义	Miller–Dieker syndromen. Brit. /ˌmɪləˈdiːkə ˌsɪndrəʊm/, U.S. /ˌmɪlərˈdikər ˌsɪndroʊm/ Origin: From proper names, combined with an English element. Etymons: proper names Miller , Dieker , syndrome n. Etymology: < the names of James Q. Miller (1926–2005), U.S. physician, and Hans Jochen Dieker (1941–73), German physician + syndrome n.Miller and Dieker separately described patients with symptoms of this syndrome in Neurology (1963) 13 841 and in D. Bergsma First Conf. Clin. Delineation of Birth Defects (1969) 53 respectively. Medicine. A syndrome comprising congenital malformations of the face, brain (absence of cerebral gyri), and various other organs, leading to severe neurological abnormalities and failure of growth and development, associated with abnormalities of chromosome 17. 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 1980 K. L. Jones et al. in Pediatrics 66 277 In 1963 Miller described a malformation syndrome in a brother and sister with postnatal growth deficiency... Autopsy..revealed lissencephaly. Subsequently, Dieker et al reported four additional patients with this disorder..and referred to it as ‘lissencephaly syndrome’... Other phenotypic features, such as the growth, craniofacial, and neurologic abnormalities are more helpful in diagnosing this disorder, which we refer to as the Miller–Dieker syndrome. 1990 Lancet 27 Oct. 1035/1 In the Miller-Dieker syndrome seizures, often infantile spasms, almost invariably start in the first 6 months of life. 1995 Nature 6 Apr. 501/3 This gene..is defective in Miller–Dieker syndrome, a neurological disorder characterized by the absence of gyri and sulci in the cerebral cortex (lissencephaly). This is a new entry (OED Third Edition, March 2002; most recently modified version published online March 2022). < n.1980
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