Antoine Bernard-Jean Marfan
- Dennie-Marfan syndrome
- Marfan's hypermobility syndrome
- Marfan's law
- Marfan's sign
- Marfan's symptom
- Marfan's syndrome I
- Marfan-Madelung syndrome
Biography of Antoine Bernard-Jean Marfan
Antoine Bernard-Jean Marfan was the son of a provincial medical practitioner who was of modest means and who initially discouraged his son from entering medicine. He finally acquiesced and Marfan entered the medical school in Toulouse. After two years he went to Paris in 1879, became externe in 1880 and started an internship in 1882. After taking time out to do his military service, he graduated with a silver medal in 1886 and received his doctorate in 1887.
He was Chef de clinique medicale 1889-1891, agrégé of paediatrics to the Faculté de Médecine de l’Université de Paris in 1892 and until 1901 deputised for Grancher in the Hôpital des Enfants Malades during the winter terms. It was here he became interested in pediatrics. In 1892 he was appointed assistant professor of paediatrics in the Paris faculty.
Marfan was made head of the diphteria service at the Hospital for Sick Children and in 1910 professor of therapy. In 1914, at the age of 56 years, he was appointed as the first professor of infantile hygiene at the newly established pediatric clinic at the University of Paris.
His career was spent at the Hôpital des Enfants Malades in the Rue des Sèvres, where he remained until his retirement in 1928. He was a member of the Académie de Médecine from 1914. In 1920 his chair was moved to the Hospice des Enfants-Assistés.
The writing of his doctoral thesis, "Troubles and gastric lesions in pulmonary tuberculosis", prompted Marfan's interest in pulmonary tuberculosis. This paper gave rise to the concept known as the Marfan law, which noted the rarity of pulmonary tuberculosis following the healing of local tuberculous lesions because of the development of immunity. Marfan wrote: "One rarely records pulmonary tuberculosis in people who, during their childhood, had been attacked by the disease and in whom lesions had healed before the age of 15 years". Research such as this led to the development of the BCG vaccine.
Marfan was one of the first to recognise the importance of skin reactions and when von Pirquet developed his technique for skin testing for tuberculosis he immediately employed this in his clinical studies which became classics.
Marfan published extensively on pediatric themes and in 1897 was co-author of Treatise of Children's Diseases which was awarded the prize of the French Academy of Sciences. He investigated the harmful effects of feeding infants goat’s milk and made extensive researches on rachitis. He was undoubtedly the pioneer in paediratrics in France and one of the most outstanding figures in his time.
Marfan was a founder and editor of Le Nourisson and co-editor with Jean-Martin Charcot and others of the System of Medicine. He was elected honorary fellow of the Royal Society of Medicine of the United Kingdom in 1934.
Marfan had dignity, friendliness, and patience, and he was particularly grateful to his teachers, Ernest-Charles Lasègue (1816-1883) and Charles Félix Michel Peter (1824-1893). He stated: «In medicine it is always necessary to start with the observation of the sick and to always return to this as this is the paramount means of verification. Observe methodically and vigorously without neglecting any exploratory procedure using all that can be provided by physical examination, chemical studies, bacteriological findings and experiment, one must compare the facts observed during life and the lesions revealed by autopsy.»
From the time he replaced Grancher at the Clinic of Sick Children he organised a clinic for child nutrition, discussing the problems with the young mothers, incorporating rules of milk feeding which were passsed on through his many pupils to other clinica. He created a post of a social worker in 1914 thanks to the help of the pediatrician Madame Nageotte (wife of Jean Nageotte, 1866-1948) and Getting, and the first appointment was Mlle. Oelcker. He took a very active part in promoting the welfare of children. He was a member since its foundation of the governing body of the Society for the Preservation of Infantss against Tuberculosiss, which he had called Grancher and which at the time of his death had approximately 6.000 pupils every year from all parts of France. In his will he left a considerable fortune to this institution. In 1934, he received an honorary fellowship of the Royal Society of Medicine.
In 1896 Marfan, presented the case of a 5-year-old girl, Gabrielle P, to the Société Médicale des Hôpitaux de Paris. Marfan pointed out her Gabrielle's disproportionately long limbs. and asthenic physique. Her mother had noticed the abnormalities already at birth. The fingers and toes were exceptionally long and slender, making a spider-like impression. Marfan used the term "pattes d'araignée", spider’s legs, and called the condition dolicostenomely (Greek: stenos = narrow, slender; melos = limb). Gabrielle P's striking abnormalities of the skeletal system progressed to the time of her death in early adolescence, probably from tuberculosis [Marfan, 1938]. Whether Gabrielle was affected by what became known as the Marfan syndrome has never been clarified. Indeed, she perhaps had congenital contractural arachnodactyly [Hecht and Beals, 1972].
In 1902 Henri Méry (1782-1927) and Léon Babonneix (1876-) studied this same girl again, but this time they had the advantage of new technology in the form of radiography. They noted that her dorsal spine was malaligned and that there was thoracic asymmetry, calling the condition hyperchondroplasia, as they believed the disease to be the opposite of achondroplasia. In later studies further anomalies were documented, including arachnodactyly (long digits), cardiovascular abnormalities and dislocation of the ocular lens. A common and often lethal complication is dissection of the aorta, and it is now known that inheritance is autosomal.
Achard, also in 1902, reported another girl with similar manifestations and entitled his article «arachnodactyly», on the basis of her long digits. Achard also commented on his patient’s articular hypermobility and the familial nature of her condition.
In subsequent reports, in which the phenotype was expanded to include cardiovascular and ocular abnormalities, the designation «Marfan’s syndrome» was employed. It is an irony of fate that that Achard’s patient had the condition which is now regarded as Marfan syndrome, while Marfan’s patient, Gabrielle, did not suffer from Marfan’s syndrome but some other inheritable disease with a tendency to contractures, "congenital contractural arachnodactyli".
Victor Almon McKusick (1921-) has given a comprehensive review of the Marfan syndrome in his classic monograph Heritable Disorders of Connective Tissue.
The first to use the term Marfan’s syndrome was Henricus Jacobus Marie Weve (1888-1962) of Utrecht in 1931.
Apart from his life in medicine Marfan was an extremely cultivated man with interests in art and literature and greatly enjoyed concerts and his visists to Italy where he had a particular interesst in Venetian painting. After he retired he wrote a biography of his friend Emile Broca and of his father as well as a study of Lauraguais.
With Jacques-Joseph Grancher (1843-1907) and Jules Comby (1853-1947) Marfan was publisher of Traité des maladies de l’enfance (Paris, 1897). 1913-1922 he was publisher of the journal Le Nourrisson.
- Traité de l’allaitement et de l’alimentation des enfants du premier âge.
Paris, 1899; 4th edition, 1930.
- Leçons cliniques sur la diphtérie et quelques maladies des premières voies. Paris, 1905.
- Les vomissements périodiques avec acétonémie.
Paris, 1921; 2nd edition, 1926.
- Les affections des voies digestives dans la première enfance.
Paris, 1923; 2nd edition, 1930.
- Pratique des maladies des enfants.
With Jean Andérodias (1875-) and Jean René Cruchet (1875-1959), Paris, 1923.
- Clinique des maladies de la première enfance.
2 volumes. 1928 and 1930.
- Troubles et lesions gastriques dans la phthisie pulmonaire.
- Maladies des voies respiratoire.
In Jean-Martin Charcot, Charles-Joseph Bouchard, and Édouard Brissaud (1852-1909), editors: and et al: Traité de Médecine; Paris, 1892.
- Un cas de déformation congénitgale des quatres membres, plus prononcée aux extremités, caractérisée par l'allongement des os avec un certain degré d'amincissiment.
Bulletins et memoires de la Société medicale des hôpitaux de Paris, 1896, 13: 220-228.
- Infant feeding and nutrition. 1899.