Literature DB >> 4093773

[Fatal Marfan syndrome in the neonatal period].

J Jalaguier, F Montoya, P Sarda, L Teot, H Bonnet.   

Abstract

Case-report of neonatal Marfan Syndrome with at birth the following observations: arachnodactyly, excessive length of arm, cardiac anomalies with hemodynamic troubles leading to death within 4 days. Anatomical data of the postmortem examination and histologic anomalies of the aorta confirm the diagnosis. No case of Marfan syndrome are to be found among forebearers. These characteristics underline the rarity, the gravity of the pronostic and the often sporadic appearance of the Marfan syndrome when revelated in the neonatal period.

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Year:  1985        PMID: 4093773

Source DB:  PubMed          Journal:  J Genet Hum        ISSN: 0021-7743


  4 in total

1.  Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome.

Authors:  M Godfrey; M Raghunath; J Cisler; C L Bevins; A DePaepe; M Di Rocco; J Gregoritch; K Imaizumi; P Kaplan; Y Kuroki
Journal:  Am J Pathol       Date:  1995-06       Impact factor: 4.307

2.  Megalocornea. Clinical and genetic aspects.

Authors:  F M Meire
Journal:  Doc Ophthalmol       Date:  1994       Impact factor: 2.379

3.  Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency.

Authors:  I M Buntinx; P J Willems; S E Spitaels; P J Van Reempst; A M De Paepe; J E Dumon
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

4.  Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype.

Authors:  D Bonneau; J L Huret; G Godeau; D Couet; M Putterman; J Tanzer; P Babin; M Larrègue
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

  4 in total

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