Literature DB >> 1951465

Costello syndrome.

V M Der Kaloustian1, B Moroz, N McIntosh, A K Watters, S Blaichman.   

Abstract

In 1971, Costello described a new syndrome in 2 patients. The major clinical findings comprise short stature; redundant skin of the neck, palms, soles, and fingers; curly hair; relative macrocephaly; depressed nasal bridge; papillomata around the mouth and nares; distinct facial gestalt; hyperextensible joints; and mental retardation. We present a third patient and review the manifestations of this condition.

Entities:  

Mesh:

Year:  1991        PMID: 1951465     DOI: 10.1002/ajmg.1320410118

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


  11 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

3.  Costello syndrome: two cases with embryonal rhabdomyosarcoma.

Authors:  B Kerr; O B Eden; R Dandamudi; N Shannon; O Quarrell; A Emmerson; E Ladusans; M Gerrard; D Donnai
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

Review 4.  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

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

6.  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 7.  Non-HPV Papillary Lesions of the Oral Mucosa: Clinical and Histopathologic Features of Reactive and Neoplastic Conditions.

Authors:  Gisele N Mainville
Journal:  Head Neck Pathol       Date:  2019-01-29

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.  Enhanced human brain associative plasticity in Costello syndrome.

Authors:  M Dileone; P Profice; F Pilato; P Alfieri; L Cesarini; E Mercuri; C Leoni; M Tartaglia; R Di Iorio; G Zampino; V Di Lazzaro
Journal:  J Physiol       Date:  2010-07-26       Impact factor: 5.182

10.  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
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