Literature DB >> 2108956

Two sisters with Rett syndrome.

C A Haenggeli1, J Moura-Serra, C D DeLozier-Blanchet.   

Abstract

We present the clinical histories and physical findings of two sisters with Rett syndrome. The physical examination, combined with a review of their medical charts, revealed that both patients met the necessary criteria for the diagnosis of Rett syndrome as defined by the Rett syndrome diagnostic criteria work group. The older sister, currently 25 years of age, is typically affected, whereas the younger sister, currently 22 years of age, is affected with a seizure disorder showing an unusually early onset.

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Year:  1990        PMID: 2108956     DOI: 10.1007/bf02206862

Source DB:  PubMed          Journal:  J Autism Dev Disord        ISSN: 0162-3257


  22 in total

1.  Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group.

Authors: 
Journal:  Ann Neurol       Date:  1988-04       Impact factor: 10.422

2.  Rett syndrome--search for genetic markers.

Authors:  F Hanefeld; U Hanefeld; E Wilichowski; J Schmidtke
Journal:  Am J Med Genet Suppl       Date:  1986

3.  A case of ornithine transcarbamylase deficiency with Rett syndrome manifestations.

Authors:  S L Hyman; M L Batshaw
Journal:  Am J Med Genet Suppl       Date:  1986

4.  Chromosome abnormalities in infantile autism and other childhood psychoses: a population study of 66 cases.

Authors:  C Gillberg; J Wahlström
Journal:  Dev Med Child Neurol       Date:  1985-06       Impact factor: 5.449

5.  Rett syndrome in monozygotic twins.

Authors:  M W Partington
Journal:  Am J Med Genet       Date:  1988-03

6.  Linkage analysis of the Rett syndrome using human chromosomal specific probes.

Authors:  M Anvret; I M Johansson; J Wahlström; B Hagberg
Journal:  Brain Dev       Date:  1985       Impact factor: 1.961

7.  [On a unusual brain atrophy syndrome in hyperammonemia in childhood].

Authors:  A Rett
Journal:  Wien Med Wochenschr       Date:  1966-09-10

8.  A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases.

Authors:  B Hagberg; J Aicardi; K Dias; O Ramos
Journal:  Ann Neurol       Date:  1983-10       Impact factor: 10.422

9.  Norrie disease resulting from a gene deletion: clinical features and DNA studies.

Authors:  D Donnai; R C Mountford; A P Read
Journal:  J Med Genet       Date:  1988-02       Impact factor: 6.318

10.  Electroencephalographic abnormalities in Rett syndrome.

Authors:  D A Trauner; R H Haas
Journal:  Pediatr Neurol       Date:  1987 Nov-Dec       Impact factor: 3.372

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  3 in total

1.  Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.

Authors:  L Villard; N Lévy; F Xiang; A Kpebe; V Labelle; C Chevillard; Z Zhang; C E Schwartz; M Tardieu; J Chelly; M Anvret; M Fontès
Journal:  J Med Genet       Date:  2001-07       Impact factor: 6.318

Review 2.  Rett syndrome.

Authors:  A Clarke
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

3.  Monozygotic twins with Rett syndrome: Phenotyping the first two years of life.

Authors:  Christa Einspieler; Peter B Marschik; Wanderley Domingues; Victor B Talisa; Katrin D Bartl-Pokorny; Thomas Wolin; Jeff Sigafoos
Journal:  J Dev Phys Disabil       Date:  2014-04
  3 in total

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