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PMID: 2108956 Published · ppublish English Case Reports Journal Article

Two sisters with Rett syndrome.

Journal of autism and developmental disorders ·Vol. 20 ·No. 1 ·1990-03-00 ·Pages 129-38

Haenggeli CA, Moura-Serra J, DeLozier-Blanchet CD

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.

MeSH Terms
Adolescent Adult Child Child Development/physiology Child, Preschool Electroencephalography Epilepsy, Tonic-Clonic/genetics Female Follow-Up Studies Humans Infant Psychomotor Performance Rett Syndrome/diagnosis,genetics Stereotyped Behavior
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Haenggeli C A
Department of Pediatrics, University of Geneva, Switzerland.
Moura-Serra J
DeLozier-Blanchet C D
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22 references, click to expand
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Article Info
Journal
Journal of autism and developmental disorders
Abbr.
J Autism Dev Disord
ISSN
0162-3257
Published
1990-03-00
Pages
129-38
Language
English
Region
United States
NLM ID
7904301
Subset
IM
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