Literature DB >> 9475096

Costello syndrome in two Brazilian children.

R Pratesi1, M Santos, I Ferrari.   

Abstract

The increasing number of children with Costello syndrome described world wide has helped in delineating further the characteristic features of this condition. We report here two children, seen in the Genetic Division of the Brasilia University Hospital, showing the main features of the syndrome: "coarse" face, redundant skin on the feet and hands, hyperextensible hand and finger joints, curly hair, growth and psychomotor retardation, and feeding problems. In addition, one of the patients developed hydrocephalus during the evolution of the disease, making the third published patient with this complication. We discuss the appropriateness of serial brain imaging studies in Costello syndrome in light of the relative frequency of central nervous system malformations.

Entities:  

Mesh:

Year:  1998        PMID: 9475096      PMCID: PMC1051188          DOI: 10.1136/jmg.35.1.54

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  19 in total

1.  Polyhydramnios and paroxysmal atrial tachycardia as first clinical signs in Costello syndrome.

Authors:  J P Fryns; H Devlieger; M Gewillig; P Lukusa; K Devriendt
Journal:  Genet Couns       Date:  1996

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

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

3.  Costello syndrome.

Authors:  A Torrelo; A López-Avila; I G Mediero; A Zambrano
Journal:  J Am Acad Dermatol       Date:  1995-05       Impact factor: 11.527

4.  Cutis laxa and the Costello syndrome.

Authors:  M A Patton; M Baraitser
Journal:  J Med Genet       Date:  1993-07       Impact factor: 6.318

Review 5.  New multiple congenital anomalies: mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement.

Authors:  Z Borochowitz; L Pavone; G Mazor; R Rizzo; H Dar
Journal:  Am J Med Genet       Date:  1992-07-01

6.  Report on two patients with Costello syndrome and sialuria.

Authors:  M Di Rocco; R Gatti; P Gandullia; A Barabino; P Picco; C Borrone
Journal:  Am J Med Genet       Date:  1993-11-15

7.  Delineation of the Costello syndrome.

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

Review 8.  The Costello syndrome.

Authors:  B Say; M Güçsavaş; H Morgan; C York
Journal:  Am J Med Genet       Date:  1993-08-15

9.  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

10.  Elastic fiber degeneration in Costello syndrome.

Authors:  M Mori; T Yamagata; Y Mori; M Nokubi; K Saito; Y Fukushima; M Y Momoi
Journal:  Am J Med Genet       Date:  1996-02-02
View more
  2 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.  Respiratory system involvement in Costello syndrome.

Authors:  Natalia Gomez-Ospina; Christin Kuo; Amitha Lakshmi Ananth; Angela Myers; Marie-Luise Brennan; David A Stevenson; Jonathan A Bernstein; Louanne Hudgins
Journal:  Am J Med Genet A       Date:  2016-04-22       Impact factor: 2.802

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.