Literature DB >> 3389143

Probable homozygotic form of the Marfan syndrome in a newborn child.

J Schollin1, B Bjarke, K H Gustavson.   

Abstract

A case of Marfan's syndrome diagnosed in a newborn boy is described. Both parents were affected by the disease but none of them was aware of it. The boy had cardiac, skeletal and ocular manifestations from birth. He suffered early from severe congestive heart failure due to mitral insufficiency and died at four months of age of pneumonia. The family history is described in this report.

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Year:  1988        PMID: 3389143     DOI: 10.1111/j.1651-2227.1988.tb10679.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN: 0001-656X


  3 in total

1.  A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.

Authors:  L Karttunen; M Raghunath; L Lönnqvist; L Peltonen
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

2.  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

3.  The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.

Authors:  Yvonne Hilhorst-Hofstee; Marry E B Rijlaarsdam; Arthur J H A Scholte; Marietta Swart-van den Berg; Michel I M Versteegh; Iris van der Schoot-van Velzen; Hans-Joachim Schäbitz; Emilia K Bijlsma; Marieke J Baars; Wilhelmina S Kerstjens-Frederikse; Jacques C Giltay; Ben C Hamel; Martijn H Breuning; Gerard Pals
Journal:  Hum Mutat       Date:  2010-12       Impact factor: 4.878

  3 in total

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