Marfan's syndrome historical perspective
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Editors-In-Chief: William James Gibson, C. Michael Gibson, M.S., M.D.
Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [1] ; Assistant Editor-In-Chief: Cassandra Abueg, M.P.H. [2]
Overview
Historical Perspective
In 1896, French pediatrician Antoine-Bernard Jean Marfan described a five year old girl, Gabrielle P, with skeletal features characteristic of Marfan Syndrome [1], pieds d’aragne (French, spider feet) and dolichostenomalie (French, longheadedness meaning long limbs). In 1902, Emile Charles Achard described a similar syndrome, reporting scoliosis and arachnodactyly (abnormally long and slender fingers) as essential features [2]. Salle contributed the observation in 1912 that patients with arachnodactyly had thickened mitral leaflets, ocular abnormalities and increase in eosinophilic cells in the pituitary [3], [4]. The observation that ectopic lens was associated with other symptoms was first made by Boerger in 1914 [5]. Weve established the autosomal dominant inheritance of the disease, still known as arachnodactyly, in 1931 [6]. We have postulated that the syndrome arose from a defect in mesenchymal tissue and thus designated the syndrome dystrophia mesodermalis congenita typus Marfanis. Association of the syndrome with aortic dilation and dissection, the major causes of mortality in individuals with Marfan Syndrome were identified in 1943 by RW Baer et al. as well as Etter and Glover [7], [8]. Harry C Deitz finally established the molecular basis of Marfan Syndrome in his landmark 1991 Nature paper, showing that mutations in the FBN1 gene are responsible for the disease [9].
References
- ↑ Marfan A. 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;13:220-8.
- ↑ BOYER BE, MARTIN MM (1958). "Marfan's syndrome; report of a case manifesting a giant bone cyst of the mandible and multiple (110) basal cell carcinomata". Plastic and Reconstructive Surgery and the Transplantation Bulletin. 22 (3): 257–63. PMID 13590978. Unknown parameter
|month=ignored (help);|access-date=requires|url=(help) - ↑ Salle V. Grosse der Extremitaten mit einem an Akromegalie erinnernden Symptomenkomplex. J Kinderheilk 1912;75:540.
- ↑ BLACK HH, LANDAY LH (1955). "Marfan's syndrome; report on five cases in one family". A.M.A. American Journal of Diseases of Children. 89 (4): 414–20. PMID 14360720. Unknown parameter
|month=ignored (help);|access-date=requires|url=(help) - ↑ Boerger F. Ueber zwei Falle von Arachnodaktylie. Monatsschr Kinderheilk 1914;13:335.
- ↑ Weve H. Ueber Arachnodaktylie (Dystrophia mesodermalis congenita, Typus Marfan). Archiv für Augenheilkunde, Wiesbaden 1931;104:1-46.
- ↑ Baer RW, Taussig, H. B., Oppenheimer, E. H. Congenital aneurysmal dilatation of the aorta associated with arachnodactyly. Bull Johns Hopkins Hosp 1943.
- ↑ Major Lewis E. Etter; L. Pellman Glover MD. ARACHNODACTYLY COMPLICATED BY DISLOCATED LENS AND DEATH FROM RUPTURE OF DISSECTING ANEURYSM OF AORTA. Journal of the American Medical Association 1943;123:88-9.
- ↑ Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM (1991). "Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene". Nature. 352 (6333): 337–9. doi:10.1038/352337a0. PMID 1852208. Retrieved 2010-12-22. Unknown parameter
|month=ignored (help)