Document Detail

Fragile X syndrome: associated neurological abnormalities and developmental disabilities.
MedLine Citation:
PMID:  4083849     Owner:  NLM     Status:  MEDLINE    
The fragile X syndrome is a frequent cause of developmental disabilities. It is associated primarily with nonprogressive X-linked mental retardation. The neurodevelopmental abnormalities of 25 males and 3 females are described. Mental retardation was mild in 4, moderate in 11, severe in 6, and profound in 2 patients, while 4 patients had only learning disabilities. The presence or absence of a developmental disability could not be determined in the youngest (8 months). Seven patients had had infantile autism and 7 had epilepsy. Generally no major focal neurological abnormalities were observed but most of the patients exhibited minor signs. The severity of developmental disabilities in our patients varied between and within families and between genders. All adult males had macroorchidism. Unusual facial features were present in 13 males but none were seen in the females. Familial occurrences were found in 18 cases (64%); 10 cases (36%) were sporadic. Overall, males were more severely affected than females. Diagnostic tests including computed tomographic scans, electroencephalograms, and evoked potentials did not disclose any specific abnormalities.
K E Wisniewski; J H French; S Fernando; W T Brown; E C Jenkins; E Friedman; A L Hill; C M Miezejeski
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Annals of neurology     Volume:  18     ISSN:  0364-5134     ISO Abbreviation:  Ann. Neurol.     Publication Date:  1985 Dec 
Date Detail:
Created Date:  1986-02-19     Completed Date:  1986-02-19     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7707449     Medline TA:  Ann Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  665-9     Citation Subset:  IM    
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MeSH Terms
Autistic Disorder / complications
Child, Preschool
Epilepsy / complications
Fragile X Syndrome / complications,  diagnosis*,  genetics
Intracranial Arteriovenous Malformations / complications
Middle Aged
Sex Chromosome Aberrations / diagnosis*
Tomography, X-Ray Computed

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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