Literature DB >> 8168845

A Japanese patient with the Costello syndrome.

N Okamoto1, H Chiyo, K Imai, K Otani, Y Futagi.   

Abstract

The Costello syndrome is characterized by dwarfism, unique cutaneous lesions, distinct facial gestalt, and mental retardation. We present a Japanese patient with the Costello syndrome. She showed high serum IgM level during the early infantile period. Nissen's fundplication was carried out to treat severe gastroesophageal reflux. Endocrinological investigations revealed a partial deficiency of growth hormone.

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Year:  1994        PMID: 8168845     DOI: 10.1007/bf00202834

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  3 in total

1.  A new syndrome: mental subnormality and nasal papillomata.

Authors:  J M Costello
Journal:  Aust Paediatr J       Date:  1977-06

2.  Delineation of the Costello syndrome.

Authors:  R A Martin; K L Jones
Journal:  Am J Med Genet       Date:  1991-12-01

3.  Costello syndrome.

Authors:  V M Der Kaloustian; B Moroz; N McIntosh; A K Watters; S Blaichman
Journal:  Am J Med Genet       Date:  1991-10-01
  3 in total
  6 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

2.  The IGF system in a case of Costello syndrome.

Authors:  A Barreca; M Cotellessa; M Boschetti; A Giannattasio; L Cresta; C Schiaffino; R Lorini
Journal:  J Endocrinol Invest       Date:  2006-03       Impact factor: 4.256

3.  Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia.

Authors:  Dogus Vuralli; Can Kosukcu; Ekim Taskiran; Pelin Ozlem Simsek-Kiper; Gulen Eda Utine; Koray Boduroglu; Ayfer Alikasifoglu; Mehmet Alikasifoglu
Journal:  Mol Syndromol       Date:  2020-09-16

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.  Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observation.

Authors:  Ewa Blachowska; Elżbieta Petriczko; Anita Horodnicka-Józwa; Agata Skórka; Magdalena Pelc; Małgorzata Krajewska-Walasek; Mieczysław Walczak
Journal:  Ital J Pediatr       Date:  2016-01-26       Impact factor: 2.638

Review 6.  The impact of RASopathy-associated mutations on CNS development in mice and humans.

Authors:  Minkyung Kang; Yong-Seok Lee
Journal:  Mol Brain       Date:  2019-11-21       Impact factor: 4.041

  6 in total

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