geoscience.net logo
+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Marfan disease presenting in neonates with rapid cardio-vascular failure. Apropos of 2 cases


, : Marfan disease presenting in neonates with rapid cardio-vascular failure. Apropos of 2 cases. Annales de Pediatrie 36(7): 465-468

We report two exceedingly unusual and severe cases of Marfan syndrome with neonatal manifestations. Clinical features were caricatural. The skin was of the cutis laxa type. Both infants died shortly after birth as a result of severe cardiovascular lesions. Histologic examination of the aortic media confirmed the diagnosis. Because this genetic connective tissue dysplasia is inherited on an autosomal dominant basis with strong penetrance, and because in both instances the two parents had a negative family history, a dominant mutation seems likely in our cases and prompted us to be optimistic when giving genetic counseling. We point out the characteristic features of these exceptional early forms and describe the results of a detailed histologic examination of the skin that completes data from the literature.

US$29.90

PMID: 2683946


Other references

Wedemann, W., 1938: Feeding experiments with cacaoshell meal on various domestic animals. The literature on the use of cacaoshell meal in animal feeding is reviewed with particular reference to the possible effects of the theobromine content of the cacaoshell. Two samples of meal, one ground much more coarsely than the other, were sele...

Obiglio, J.R., 1956: Legal medicine and its relationship with psychosomatic medicine. Revista Medica Cubana 67(2): 137-149

Rueter, L.E.; Anderson, D.J.; Briggs, C.A.; Donnelly-Roberts, D.L.; Gintant, G.A.; Gopalakrishnan, M.; Lin, N-Horng.; Osinski, M.A.; Reinhart, G.A.; Buckley, M.J.; Martin, R.L.; McDermott, J.S.; Preusser, L.C.; Seifert, T.R.; Su, Z.; Cox, B.F.; Decker, M.W.; Sullivan, J.P., 2004: ABT-089: pharmacological properties of a neuronal nicotinic acetylcholine receptor agonist for the potential treatment of cognitive disorders. ABT-089 [2-methyl-3-(2-(S)-pyrrolidinylmethoxy)pyridine dihydrochloride salt] is a selective neuronal nicotinic receptor (NNR) modulator with cognitive enhancing properties in animal models of cognitive functioning. Amongst NNR subtypes, ABT-089 s...

van Dijken, F.R.; van Sambeek, M.P.; Scharloo, W., 1979: Divergent selection on locomotor activity in Drosophila melanogaster. III. Genetic analysis. Divergent directional selection produced three pairs of lines each consisting of a line with high and a line with low locomotor activity. Reciprocal crosses between the high and low lines of one of these pairs showed that a considerable part of th...

Liu, Z.; Li, D.; Li, S.; Bai, D.; He, X.; Hu, Y., 2007: Synthesis of novel 5,6-substituted furopyrimidines via Pd-catalyzed cyclization of alkynylpyrimidinols with aryl iodides. A flexible method for the synthesis of 5,6-disubstituted furo [2,3-d] pyrimidine derivatives is described. The key step is a palladium-catalyzed arylative cyclization of alkynylpyrimidinols with various aryl iodides, which gave the title compound...

Roux, C.; Baron, G.; Briot, K.; Roux, B.; Cortet, B.; Thomas, T., 2017: Management of oral bisphosphonates treatment by rheumatologists and determinants of therapeutic changes: a case-vignette-based study. Using case vignette methodology, this study shows that only 4% of patients are maintained on oral bisphosphonates over 5 years, and prescribers switch or stop the treatment in 20-30% of cases at each visit. There are few determinants of these cha...

van Den Elsen, J.M.; Kuntz, D.A.; Hoedemaeker, F.J.; Rose, D.R., 1999: Antibody C219 recognizes an alpha-helical epitope on P-glycoprotein. The ABC transporter, P-glycoprotein, is an integral membrane protein that mediates the ATP-driven efflux of drugs from multidrug-resistant cancer and HIV-infected cells. Anti-P-glycoprotein antibody C219 binds to both of the ATP-binding regions of...

Vollesen K., 1989: A revision of megalochlamys and ecbolium acanthaceae justicieae. The genera Megalochlamys Lindau and Ecbolium Kurz are redifined are revised. Three species are transferred from Ecbolium to Megalochlamys. Five new species and two subspecies are described in Megalochlamys. In Ecbolium nine new species and two var...

Northington, J.M., 1962: Vaccination urged against influenza. Clinical Medicine 69: 839-841

Power, H.A.; Cravotta, C.A., 2010: Penicillin in obstetrics; a preliminary survey. American Journal of Obstetrics and Gynecology 51: 230-234