Facets

1857

#4933.1

Traité des dégénérescences physiques, intellectuelles et morales de l’espèce humaine. 1 vol. and atlas.

The main support for the theory of mental illness as regression which dominated psychiatric practice for several decades. Morel described and illustrated the nature, causes, and signs of human degeneration. He focused…

1858

#2386

Report on the effects of infantile syphilis in marring the development of the teeth.

Hutchinson of St. Bartholomew’s Hospital, is memorable for his original description of the notched incisors (“Hutchinson’s teeth”) in congenital syphilis. His name is also associated with “Hutchinson’s triad” (interst…

1858

#2761

On malformations, etc., of the human heart.

Includes an account of the “tetralogy of Fallot” (see No. 2792). Peacock’s book was “the first comprehensive study covering the whole field” (Maude Abbott). Reprinted, Boston, Mass., 1973.

1859

#812.2

Fissura sterni congenita. New observations and experiments made in Amerika [sic] and Great Britain with illustrations of the case and instruments.

Records first use of telegraphy to record and measure the heart beat and pulse, written and published by the patient, who lived to the age of 45. This was done in Boston with an instrument placed against Groux’s chest…

1859

#3913

Lieber das Alcapton; ein neuer Beitrag zur Frage: welche Stoffe des Harns können Kupferreduction bewirken?

Excretion of homogentisic acid (in alkaptonuria) first described.

1860

#3459.1

A practical treatise on the aetiology, pathology, and treatment of the congenital malformations of the rectum and anus.

The first systematic treatise on the subject, and a landmark in pediatric surgery. Includes an early account of colostomy and one of the earliest histories of that procedure. Digital facsimile from the Hathi Trust at …

1861

#4693

Klinik der Leberkrankheiten. Bd. 2.

Pp. 62-64: First description of progressive familial hepatolenticular degeneration (“Kinnier Wilson’s disease”; see No. 4717).

1863

#4332

Hochgradige Dislocation der Scapula.

First description of congenital high-scapula “Sprengel’s deformity”; see also No. 4359.

1863

#4333

Contractur des Metatarsus.

Congenital metatarsus varus described.

1863

#4696

Ueber degenerative Atrophie der spinalen Hinterstränge.

Friedreich was the first to describe a form of ataxia (“Friedreich’s ataxia”), hereditary, attended with impairment of speech, lateral curvature of the spine, and with paralysis of the muscles of the lower limbs. The …

1865

#3064.2

Hereditary epistaxis.

1865

#3915

Glycosurie, diabète sucré. In his Clinique médicale de l’Hôtel-Dieu, 2me. éd., 2, 663-98.

First description of hemochromatosis.

1865

#6359

Skull-cap showing congenital deficiencies of bone.

1866

#222

Versuche über Pflanzen-Hybriden.

Discovery of the Mendelian ratios, the most significant single achievement in the history of genetics. The story of how Mendel published his paper in this relatively obscure journal only to have his discovery ignored …

1866

#2764.1

Ueber einen sehr seltenen Fall von Insufficienz der Valvula tricuspidalis, bedingt durch eine angeborene hochgradige Missbildung derselben.

“Ebstein’s anomaly,” a congenital abnormality of the tricuspid valve. Translation in Amer. J. Cardiol, 1968, 22, 867-72.

1866

#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…

1868

#224

Natürliche Schöpfungsgeschichte. Gemeinverständlich wissenschaftliche Vorträge über die Entwickelungslehre im Allgemeinen und diejenige von Darwin, Goethe und Lamarck im Besonderen, über die Anwendung derselben auf den Ursprung des Menschen . . .

Haeckel constructed the first of the now commonplace ancestral trees, depicting the evolution of life from the simplest organisms through 21 stages of development to modern man – the 22nd and final stage. Within this …

1868

#224.1

The variation of animals and plants under domestication. 2 vols.

Darwin carried out numerous investigations with pigeons and various plants. He recognized continuous and discontinuous variation; he concluded that crossing tends to keep populations uniform.

1868

#4056.1

Ueber Cataracten in Verbindung mit einer eigenthümlichen Haut-de-generation.

Poikiloderma congenitale (Rothmund).

1869

#226

Hereditary genius.

Galton investigated the families of great men and suggested that genius was hereditary, and thus founded the science of Eugenics, although he did not coin the word until 1883 (see No. 230). Karl Pearson’s, The life, l…

1869

#11144

Des difformités congénitales et acquises des doigts et des moyens d’y remédier. Thèse présentée au concours pour l’agrégation (section de chirurgie).

This exceptionally long and comprehensive (246pp., 39 text illustrations) thesis was the first French work on hand surgery. Digital facsimile from Google Books at this link.

1870

#4339

Ueber hereditäre Knochensyphilis bei jungen Kindern.

“Wegner’s disease” – osteochondritic separation of the epiphyses in congenital syphilis.

1871

#3766.1

De la microcythémie

Vanlair and Masius were the first to suggest the concept of hereditary hemolytic anemia. Their paper was republished in book form, Brussels, 1871.

1871

#5906

Ueber hereditäre und congenital-angelegte Sehnervenleiden.

First description of hereditary optic atrophy, “Leber’s optic atrophy”.

1872

#4699

On chorea.

The classic description by Huntington of the chronic degenerative hereditary type of chorea led to the eponym “Huntington’s chorea”. Earlier accounts of the disease were given by John Elliotson (Lancet, 1832, 1, 163),…

1874

#5911

Om den medfödda, färgblindhetens diagnostic och teori.

Holmgren introduced the wool-skein test for the diagnosis of color-blindness.

1875

#2778

Die Defecte der Scheidewände des Herzens.

Rokitansky’s memoir on defects of the septum of the heart was his last work, and possibly his greatest. It represented 14 years’ study of the subject.

1876

#4744

Tonische Krämpfe in willkürlich beweglichen Muskeln in Folge von ererbter psychischer Disposition (Ataxia muscularis?).

Thomsen suffered from muscle weakness and cramps, an issue that all his sons inherited. Realizing that this was a hereditary disease, Thomsen managed to trace the disease for six generations, and found over 20 cases o…

1876 –1877

#2391

On irregular and defective tooth development.

“Moon’s molars”, the first molars in congenital syphilitics.

1876

#2707

A case of haemophilia complicated with multiple naevi.

First description of multiple hereditary telangiectasis (“Rendu–Osler–Weber disease”).

1876

#4344

Report on Pott’s disease, or caries of the spine; treated by extension, and the plaster of Paris bandage.

Sayre was the first to use plaster of Paris as a support for the spinal column in scoliosis and Pott’s disease. His name is eponymically linked with Sayre’s jacket, a plaster of Paris jacket applied while the patient …

1876 –1877

#5916

Om färgblindheten i dess förhallande till jernvägstrafiken och sjöväsendet.

A serious railway accident in Sweden in 1875 was believed by Holmgren to be due to color-blindness, and resulted in the above important paper dealing with the condition and its relation to railway and maritime traffic…

1876

#8911

The effects of cross and self fertilisation in the vegetable kingdom.

Darwin's report on over 12 years of experimentation with cross and self-fertilization on 57 species. In these experiments Darwin discovered and demonstrated the concept of hybrid vigor or heterosis.

1877

#2780

Du rétrécissement mitral pur.

First description of congenital mitral stenosis, “Duroziez’s disease.”

1877

#4344.1

Spinal disease and spinal curvature, their treatment by suspension and the use of the plaster of Paris bandage.

Sayre’s monograph on his methods of treating tuberculosis of the spine and scoliosis is the first American surgical textbook to contain actual mounted photographs, some of which are remarkable for their artistic quali…

1878

#4075.1

On the treatment of psoriasis by an ointment of chrysophanic acid.

Introduction of chrysarobin in dermatology.

1879

#2782

Recherches cliniques sur la communication congénitales des deux coeurs par inocclusion du septum intervenniculare.

Roger drew attention to an important anomaly of the septum, interventricular patency (“maladie de Roger”), demonstrating the presence of a murmur in this condition. This is sometimes called “Roger’s murmur”, although …

1879

#4346.1

Ein Fall von sogenannter Myositis ossificans progressiver.

Helferich described the association of microdactyly with myositis ossificans progressiva.

1879

#5917

On astigmatism as a cause for persistent headache and other nervous symptoms.

Thomson was a pioneer in the study of refraction. He was much interested in color-blindness and modified Holmgren’s wool-skein test. Himself affected with hypermetropia, he made important investigations on this condit…

1880

#4700

Contribution à l’étude de l’idiotàie.

“Bourneville’s disease”, tuberous sclerosis, epiloia (p. 81). Digital facsimile from biuSante.parisdescartes.fr at this link. For the history of the understanding of this disease see the remarkable Wikipedia Timeline …

1880 –1881

#5918

Symmetrical changes in the region of the yellow spot in each eye of an infant.

Tay was the first to describe amaurotic familial idiocy, his paper dealing mainly with the ocular manifestations. The condition later became known as “Tay-Sachs’s disease” (see also No. 4705).

1880 –1882

#11153

Recherches sur les difformités congénitales chez les monstres, le foetus et l'enfant.

Published as Vol. 1 of Oeuvres de Docteur Jules Guerin, of which this work was all published. Digital facsimile from Google Books at this link.

1882

#3127

De l’epithélioma primitif de la rate; hypertrophie idiopathique de la rate sans leucémie.

“Gaucher’s disease” – familial splenic anemia. Digital facsimile from wellcomecollection.org at this link.

1882

#4081

Ueber akutes umschriebenes Hautödem.

Hereditary angioedema is also known as Quincke’s edema, from the latter’s excellent description of it, but he was preceded by several other writers, including Donati (No. 4011.2) and Milton (No. 4070). It is also call…

1882 –1883

#11737

"A study of the malformations, variations, and anomalies of the circulatory apparatus in man," with a brief consideration of some of the principles governing their production.

A pioneering study of the embryology of the cardiovascular system and its relationship to congenital heart disease.

1883 –1884

#2229

Lehrbuch der speciellen Pathologie und Therapie der inneren Krankheiten. 2 vols.

Strümpell gave an excellent description of ankylosing spondylitis (“Strümpell’s disease”, the “spondylose rhizomélique” of Pierre Marie, No. 4368) on p. 152 of his Lehrbuch. See No. 2229. He published an important pap…

1883

#229

Überdie Bedeutungder Kerntheilungsfiguren.

Roux investigated why the nucleus undergoes the precise division of mitosis while the rest of the cell undergoes a rather crude division when one cell splits into two. He argued that mitosis ensures a precise halving …

1883

#230

Inquiries into human faculty and its development.

Galton, cousin of Charles Darwin, founded the science of Eugenics. In his important Inquiries he showed mathematically “the results of his experiments on the relations between the powers of visual imagery and of abstr…

1884

#229.1

Neue Untersuchungen über den Befruchtungsvorgang bei den Phanerogamen als Gründlage für eine Theorie der Zeugung.

Like Roux, Strasburger hypothesized that the cell nucleus contained the material basis of heredity, and developed the idea with evidence from microscopical observations.

1884

#13063

Memoir upon the formation of a deaf variety of the human race.

Bell determined that deafness was an inheritable trait and that deaf individuals had a tendency to marry other deaf individuals. As a eugenicist Bell considered this a problem because he thought it risked the developm…