Facets

#13511

Periodic Disease: A probable syndrome including periodic fever, benign paroxysmal peritonitis, cyclic neutropenia and intermittent arthralgia.

One of the earliest accounts of periodic disease and fevers, later variously categorized as Periodic fever syndrome and Reimann syndrome. With Siegal-Cattan-Mamou disease, this was renamed Familial Mediterranean fever.

1519

#3048

Liber theoricae nec non practicae Alsaharavii.

This is the first printing of the medical and therapeutic section of Abul Qasim’s medical encyclopedia or al-Tasrif. It contains what is probably the earliest description of hemophilia (fol. 145). Digital facsimile fr…

1553

#2369

Von der frantzösischen kranckheit drey Bücher.

Paracelsus suggested the hereditary transmission of syphilis and advocated mercury internally, as an antisyphilitic. He called the disease “French gonorrhoea” and thus started the confusion over the geographic origins…

1614

#3789

Observationum in hominis affectibus plerisque, corpori & animo, functionum laesione, dolore, aliave molestia & vitio incommodantibus, libri tres.

First known report of a case of death from hypertrophy of the thymus, in an infant, is reported on p. 172; it is reproduced on p. 239 of J. Ruhräh’s Pediatrics of the past, New York, 1925. Platter first described flex…

1652

#3050

Iatrologismorum seu medicinalium observationum pentecostae quinque utilibus praeceptis.

Panaroli described hemolytic jaundice of the newborn.

1671 –1672

#2726.1

Embryo monstro affinis Parisiis dissectus.

First known description of the “tetralogy of Fallot” (see No. 2792). Reprinted in his Opera philosophica, ed. W. Maar, Vol. 2, Copenhagen, V. Tryde, 1910, pp. 49-53. For translation see Proc. Mayo Clin., 1948, 23, 317.

1698

#3166

A treatise of the asthma.

Floyer provided the first clear descriptions of cases of bronchial asthma. Floyer himself suffered from asthma for over 30 years. He recognized the influence of heredity in asthma. The above includes (p. 239) an impor…

1700

#4299

Opera posthuma.

Page 68: first description of leontiasis ossea.

1717

#3419

An account of the dissection of a child.

First description of congenital hypertrophic pyloric stenosis. Reprinted in Mark M. Ravitch, "The story of pyloric stenosis," Surgery, 48 (1960) 1117-1143.

1731

#4013

An extract from the minutes of the Royal Society, March 16, 1731, containing an uncommon case of a distempered skin.

First known description of Ichthyosis hystrix, a group of rare skin disorders in the ichthyosis family of skin disorders characterized by massive hyperkeratosis with an appearance like spiny scales. Digital facsimile …

1733

#3422

Two examples of children born with preternatural conformations of the guts.

First description of congenital atresia of the ileum.

1744

#215.1

Dissertation physique à l’occasion du nègre blanc.

Stimulated by the much talked about appearance of an albino negro in Paris, Maupertuis expressed theories of biparental heredity and epigenesis which substantially anticipated those of Darwin, Mendel, and De Vries nea…

1745

#215.2

Vénus physique, contenant deux dissertations, l’une, sur l’origine des hommes et des animaux, et l’autre, sur l’origine des noirs.

English translation, The earthly Venus, was published in New York, 1966. Includes a reprint of No. 215.1.

1766

#4302.2

Sur un enfant auquel il manquoit les deux clavicules, le sternum et les cartilages, qui dans l’état naturel l’attachent aux côtes.

First description of cleido-cranial dysostosis.

1777

#3425

An account of the diseases most incident to children, from their birth till the age of puberty.

This is an enlarged and more important (third) edition of his An essay on the diseases most fatal to infants (1767) No. 6324. Page 49: Important description of congenital hypertrophic pyloric stenosis.

1777

#5832

An account of persons who could not distinguish colours.

First reliable record of color blindness. Written in the form of a letter to Joseph Priestley, who communicated it to the Royal Society. Huddart was a British hydrographer, engineer and inventor.

1784

#2734.3

Three cases of mal-conformation of the heart.

Three cases of congenital heart disease recorded. Two plates are opposite pp. 417-18 of the journal.

1784

#2734.4

A treatise on the diseases of children.

Underwood laid the foundation of modern pediatrics. His work was superior to anything that had previously appeared and remained the most important book on the subject for sixty years, passing through many editions. Th…

1788

#2280

An account of a remarkable transportation of the viscera.

Baillie recorded a case of congenital dextrocardia with complete situs inversus viscerum. Reprinted in Willius & Keys, Cardiac classics, 1941, pp. 257-62.

1788

#3426

Case of a scirrhus in the pylorus of an infant.

First American case report on congenital hypertrophic pyloric stenosis. Cases and observations by the Medical Society of New-Haven County…was the first American medical periodical. Only one volume was published. Beard…

1788

#4304.1

Dissertatio medica descriptionem et casus aliquot osteomalaciae sistens.

In his doctoral thesis Ekman gave an account of osteogenesis imperfecta in three generations. For extensive translation see No. 4404.1. K.S. Seedorff, Osteogenesis imperfecta, Copenhagen, 1949.

1791

#4306

Abbildungen und Beschreibungen einiger Misgeburten.

Achondroplasia is first described on page 30 and pictured on plate 11. English translation in No. 2241.

1792

#6358

Von Menschen ohne Haare und Zähne.

Hereditary ectodermal dysplasia first described. Digital facsimile from Google Books at this link.

1793

#2281

The morbid anatomy of some of the most important parts of the human body.

Baillie was a nephew and pupil of William Hunter. The above is the first systematic textbook of morbid anatomy, treating the subject for the first time as an independent science. See also Nos. 2736, 3167.1. Baillie wa…

1798

#3429

Observation sur un enfant né sans anus, et auquel il a été fait une ouverture pour y suppléer.

First successful construction of artificial anus, for congenital atresia, Oct. 20, 1793.

1798

#5834

Extraordinary facts relating to the vision of colours.

First scientific description of color-blindness, or “Daltonism”. Dalton himself suffered from red–green blindness. His paper was read to the Society in 1794.

1803

#3054

An account of an haemorrhagic disposition existing in certain families.

Otto recognized and adequately described hemophilia, noting that females are not affected but may transmit the disease. His paper is one of the first great contributions to medicine in North America. Reproduced in Maj…

1803

#4308

Memoria chirurgica sui piedi torti congenita dei fanciulli.

First accurate description of the pathological anatomy of congenital club-foot. English translation, Edinburgh, 1818.

1810

#668.1

On cystic oxide, a new species of urinary calculus.

Cystine, the first amino-acid to be isolated, was prepared by Wollaston from a urinary calculus. This was also the first report of cystinuria.

1810

#2378.1

Traité de la maladie vénérienne chez les enfans nouveau-nés, les femmes enceintes et les nourrices.

The first systematic work on congenital syphilis.

1814

#216.1

A treatise on the supposed hereditary properties of diseases, containing remarks on the unfounded terrors and ill-judged cautions consequent on such erroneous opinions; with notes, illustrative of the subject, particularly in madness and scrofula.

Adams was a pioneer in medical genetics. He distinguished between familial and hereditary diseases, saw that an increase in hereditary disease frequency in isolated areas could be caused by inbreeding, and suggested t…

1814

#2740.1

Pathological researches. Essay I. On malformations of the human heart. [All published.]

The first monograph on congenital defects of the heart.

1817

#4310

De rachitide congenita.

Classic description of achondroplasia. Romberg’s graduation thesis. English translation (Sydenham Society), 1853.

1819

#11240

Lectures on physiology, zoology and the natural history of man.

This work set forth Lawrence's then radical and remarkably advanced ideas concerning evolution and heredity. Arguing that theology and metaphysics had no place in science, Lawrence relied instead on empirical evidence…

1822 –1823

#3912

Account of a singular variety of urine, which turned black soon after being discharged; with some particulars respecting its chemical properties.

Alkaptonuria described.

1827

#11126

Recherches sur l’agénésie cérébrale et la paralysie congénitale.

“The first scientific paper on paralysis in children was published in 1827 by Jean Baptiste Cazauvieilh, who […] noted that congenital hemiplegia was associated with cerebral atrophy and differentiated those due to ‘l…

1827

#14199

Méthode nouvelle pour le traitement des déviations de la colonne vertébrale; précédée d'un examen critique des divers moyens employés par les orthopédistes modernes.

Digital facsimile from Google Books at this link.

1829 –1833

#2288

Traité d’anatomie pathologique. 2 vols. and atlas.

Includes a historical review of the subject from the time of the Ancient Egyptians to Corvisart, and a summary of the advances in pathology during the preceding 50 years. Vol. 2, pp. 553-600 deals with diseases of the…

1831

#4317

De la rétraction des doigts par suite d’une affection de l’aponévrose palmaire, opération chirurgicale qui convient dans ce cas.

Dupuytren devised an operation for the treatment of contracture of the palmar fascia (“Dupuytren’s contracture”). Reprinted, with translation, in Med. Classics, 1939, 4, 127-50. The condition was first mentioned by Pl…

1831

#6358.1

Merkwürdige Fragilität der Knochen ohne dyskrasische Ursache als krankhafte Eigenthümlichkeit dreier Geschwister.

Axmann of Wertheim described osteogenesis imperfecta occurring in himself and his two brothers. He referred to the occurrence of articular dislocations and blue sclerotics. See also No. 6367.

1832

#3990.1

Monographie des dermatoses.

This includes the first published illustration of Alibert’s famous “family tree” for the classification of skin diseases, a concept which Alibert borrowed freely from Torti (No. 5231). This classification was never wi…

1833

#4320

Die Durchschneidung der Achillessehne, als Heilmethode des Klumpfusses, durch zwei Fälle erläutert.

Successful tenotomy for clubfoot established the reputation of Stromeyer as an orthopedic surgeon.

1839

#4322.1

On the nature of club-foot and analogous distortions.

Little suffered from club-foot himself. This is the greatest English classic on the subject. See No. 4329.

1839

#4322.2

Operations on club-feet.

Brown was the first surgeon in the United States to specialize in orthopedics, founding the Orthopedic Infirmary of the City of Boston (soon renamed the Boston Orthopedic Institution) in 1838. Brown was also the first…

1842

#4691

Practice of medicine: A treatise on special pathology and therapeutics. 2 vols.

A case of chronic hereditary chorea in adults (“Huntington’s chorea”, see No. 4699) is described on pp. 312-13 of vol. 2. This is in the form of a letter from one of Dunglison's recently graduated students at Jefferso…

1842

#217

Om Fortplantning og Udvikling gjennem vexlende Generations-raekker.

Steenstrup is responsible for the theory of the “alternation of generations”. He showed that certain animals produce offspring which never resemble them but which, on the other hand, bring forth progeny which return i…

1846 –1848

#3912.1

Several specimens of cystine exhibited, with the particulars of two cases in which this deposit occurred in the urine.

Cystinuria described.

1852

#2904

Ueber einige der wichtigsen Krankheiten der Arterien.

One of Rokitansky’s best works. He described atheroma and calcification in the intima of arteries, and various congenital malformations. Rokitansky "is credited with the initial case report of polyarteritis nodosa in …

1854

#2383

Traité de la syphilis des nouveau-nés et des enfants à la mamelle.

An important work on congenital syphilis. English translation, 1859.

1855

#3063

Die Haemophilie oder die Bluterkrankheit.

First full clinical description of hemophilia.