Literature DB >> 7505126

The Costello syndrome: a boy with thick mitral valves and arrhythmias.

Y Izumikawa1, K Naritomi, T Tohma, N Shiroma, K Hirayama.   

Abstract

A 3-year-old boy with Costello syndrome is reported. He had typical clinical features of the syndrome including severe postnatal growth retardation, poor sucking, mild developmental delay, a coarse characteristic facies, thick and loose skin of the hands and feet, sparse and curly hair, dark skin, and relative macrocephaly but lacked nasal papillomas. In addition, he had cardiac anomalies with extrasystoles and thick mitral valve tips. Mitral valve defects may be a clinical feature of the syndrome.

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Year:  1993        PMID: 7505126     DOI: 10.1007/BF01874143

Source DB:  PubMed          Journal:  Jpn J Hum Genet        ISSN: 0916-8478


  5 in total

1.  Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.

Authors:  Angela E Lin; Barbara O'Brien; Laurie A Demmer; Kristina K Almeda; Cynthia L Blanco; Patrick F Glasow; Charles I Berul; Robert Hamilton; A Micheil Innes; Julie L Lauzon; Katia Sol-Church; Karen W Gripp
Journal:  Prenat Diagn       Date:  2009-07       Impact factor: 3.050

Review 2.  The Costello syndrome: report of a case and review of the literature.

Authors:  I Kondo; K Tamanaha; K Ashimine
Journal:  Jpn J Hum Genet       Date:  1993-12

3.  Cardiac events in Costello syndrome: One case and a review of the literature.

Authors:  Kaouthar Hakim; Rafik Boussaada; Imen Hamdi; Hela Msaad
Journal:  J Saudi Heart Assoc       Date:  2013-11-13

Review 4.  Costello syndrome in two Brazilian children.

Authors:  R Pratesi; M Santos; I Ferrari
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

5.  The Costello syndrome: are nasal papillomata essential?

Authors:  R Yoshida; Y Fukushima; H Ohashi; M Asoh; Y Fukuyama
Journal:  Jpn J Hum Genet       Date:  1993-12
  5 in total

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