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11 entries match Ancient [K01.400.470] · Genetics & Heredity [K01.900.300]
1938 CE
#4962.1
A clinical and genetic study of 1,280 cases of mental defect.
In this exhaustive study Penrose showed (p. 36) the significance of maternal age in the etiology of Down syndrome.
1951 CE
#4154.4
A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair with congenital deafness.
“Waardenburg’s syndrome”.
1928 CE
#4958
Mongolism. A study of the physical and mental characteristics of mongolian imbeciles. Revised by H. G. Brainerd.
Down syndrome.
1866 CE
#4936
Observations on an ethnic classification of idiots.
Langdon Down suggested that the physiognomical features of certain defectives enabled them to be arranged in ethnic groups; of these he differentiated Mongolian, Ethiopian, Caucasian, and American Indian. Such an ethn…
1865 CE
#6359
Skull-cap showing congenital deficiencies of bone.
1929 CE
#4397
Sur une forme de dystrophie osseuse familiale.
“Morquio’s disease”, eccentro-osteochondrodysplasia.
2003 CE
#10863
The genome sequence of the SARS-associated coronavirus.
Dated May 30, 2003 and published immediately after No. 10862 in the same issue of Science, this reported the work of Marco Marra and his team in Canada. Order of authorship in the published paper was Marra, Jones, Ast…
1931 CE
#6372.1
Ueber Arachnodaktylie (Dystrophia mesodermalis congenita, Typus Marfan).
Weve of Utrecht first clearly demonstrated the heritable nature of the Marfan syndrome (see No. 4365.1).
1919 CE
#6371.2
Ueber einen Typ multipier Abartungen, vorwiegend am Sklettsystem.
Hurler syndrome (lipochondrodystrophy, gargoylism), earlier described by Hunter (No. 6371.1).
1896 CE
#4365.1
Un cas de déformation congénitale des quatre membres, plus prononcée aux extrémités, charactérisée par l’allongement des os avec un certain degré d’amincissement.
“Marfan syndrome”. Marfan described only the skeletal deformities. He called the condition dolichostenomelia. Later writers recorded bilateral ectopia lentis and cardiovascular complications in this syndrome.
1933 CE
#3206
Zur Pathogenese der Bronchiektasien. I. Mitteilung: Bronchiektasien bei Situs viscerum inversus.
Bronchiectasis and sinus maldevelopment associated with transposition of viscera – “Kartageners syndrome”.