Literature DB >> 1789291

Delineation of the Costello syndrome.

R A Martin1, K L Jones.   

Abstract

We present a 15-year-old girl with mental retardation, short stature, coarse face, unusually thick, loose skin of the hands and feet, deep plantar and palmar creases, and nasal papillomata. Her history and physical findings are compared to those of 2 children initially reported by Costello and to 1 child recently reported by Der Kaloustian et al.

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Year:  1991        PMID: 1789291     DOI: 10.1002/ajmg.1320410316

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  9 in total

1.  Costello syndrome: Clinical phenotype, genotype, and management guidelines.

Authors:  Karen W Gripp; Lindsey A Morse; Marni Axelrad; Kathryn C Chatfield; Aaron Chidekel; William Dobyns; Daniel Doyle; Bronwyn Kerr; Angela E Lin; David D Schwartz; Barbara J Sibbles; Dawn Siegel; Suma P Shankar; David A Stevenson; Mihir M Thacker; K Nicole Weaver; Sue M White; Katherine A Rauen
Journal:  Am J Med Genet A       Date:  2019-06-20       Impact factor: 2.802

2.  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 3.  Costello syndrome: natural history and differential diagnosis of cutis laxa.

Authors:  S J Davies; H E Hughes
Journal:  J Med Genet       Date:  1994-06       Impact factor: 6.318

4.  Cutis laxa: a feature of Costello syndrome.

Authors:  S J Davies; H E Hughes
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

Review 5.  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

Review 6.  Costello syndrome.

Authors:  N Philip; S Sigaudy
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318

7.  A Japanese patient with the Costello syndrome.

Authors:  N Okamoto; H Chiyo; K Imai; K Otani; Y Futagi
Journal:  Hum Genet       Date:  1994-05       Impact factor: 4.132

Review 8.  Costello syndrome in two Brazilian children.

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

9.  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
  9 in total

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