| Rett syndrome: epidemiology and nosology--progress in knowledge 1986--a conference communication. | |
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MedLine Citation:
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PMID: 3324795 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Recent progress from pooled clinical experience is reviewed. The approximate number of documented cases of Rett syndrome (RS) as of October 1986 was 1,100. Three sister pairs, 3 monozygotic twin pairs (both twin girls affected), 3 dizygotic twin pairs (one twin girl affected) are known. Genetics are discussed based on these and other known occurrences. Early seizure-onset variants have been reported in a dozen cases representing various countries. Approximately 20 incomplete RS related cases, also termed "formes frustes," are documented as of October 1986. An actual Swedish series of 66 classical RS, 4 "formes frustes," 2 early seizure-onset variants and 9 other clinically near related atypical cases is summarized. A suggested late stage IV spinal cord impairment is discussed, as well as the whole adult multifacetted complex neurological pattern. Gastrointestinal pathology is discussed with reference to possible generalized neuropeptide disturbances. |
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Authors:
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B Hagberg; I Witt-Engerström |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Brain & development Volume: 9 ISSN: 0387-7604 ISO Abbreviation: Brain Dev. Publication Date: 1987 |
Date Detail:
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Created Date: 1988-03-21 Completed Date: 1988-03-21 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7909235 Medline TA: Brain Dev Country: JAPAN |
Other Details:
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Languages: eng Pagination: 451-7 Citation Subset: IM |
Affiliation:
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Department of Pediatrics II, University of Gothenburg, Sweden. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Brain Diseases / complications, epidemiology, genetics* Child Child, Preschool Diseases in Twins Female Humans Infant Intestinal Diseases / complications, physiopathology Male Mental Retardation / complications, epidemiology, genetics* Sex Factors Spinal Cord Diseases / complications, physiopathology Syndrome |
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