| A characteristic EEG pattern in 4p-syndrome: case report and review of the literature. | |
| | |
MedLine Citation:
|
PMID: 11271384 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Deletions on the short arm of chromosome 4 cause Wolf-Hirschhorn syndrome (WHS) and Pitt-Rogers-Danks syndrome (PRDS). WHS is associated with severe growth and mental retardation, microcephaly, a characteristic facies and congenital malformations. The PRDS phenotype is similar to WHS but generally less severe. Seizures occur in the majority of WHS and PRDS patients. Sgrò et al. [17] described a stereotypic electroclinical pattern in four unrelated WHS patients, consisting of intermittent bursts of 2-3 Hz high voltage slow waves with spike wave activity in the parietal areas during drowsiness and sleep associated with myoclonic jerks. We report a patient with PRDS and the typical EEG pattern and review 14 WHS patients with similar EEG findings reported in the literature. CONCLUSION: Awareness and recognition of the characteristic electroclinical findings in Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome might help in the early diagnosis of such patients. |
| | |
Authors:
|
A Zankl; M C Addor; M M Maeder-Ingvar; D F Schorderet |
Related Documents
:
|
16770804 - Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect. 991874 - Laurence-moon-biedl syndrome (?) and prader-willi syndrome (?) in a single family. 10946354 - Wolf-hirschorn syndrome resulting from partial monosomy 4p/trisomy 9p. 2541064 - Regional assignment of the loci for adenylate kinase to 9q32 and for alpha 1-acid glyco... 10912494 - Cirrhosis in turner's syndrome: case report and literature review. 7807364 - Fryns syndrome: a rare familial cause of congenital diaphragmatic hernia. |
Publication Detail:
|
Type: Case Reports; Journal Article; Review |
Journal Detail:
|
Title: European journal of pediatrics Volume: 160 ISSN: 0340-6199 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 2001 Feb |
Date Detail:
|
Created Date: 2001-02-22 Completed Date: 2001-04-19 Revised Date: 2005-11-16 |
Medline Journal Info:
|
Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: Germany |
Other Details:
|
Languages: eng Pagination: 123-7 Citation Subset: IM |
Affiliation:
|
Division of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland. zankl@medgen.unizh.ch |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple
/
diagnosis,
genetics,
physiopathology* Child, Preschool Chromosomes, Human, Pair 4* / genetics Electroencephalography* Epilepsy / genetics, physiopathology* Gene Deletion* Humans In Situ Hybridization, Fluorescence Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: A comparison of cytokine responses in respiratory syncytial virus and influenza A infections in infa...
Next Document: Neonatal and neurodevelopmental outcome in infants born before 30 weeks of gestation with absent or ...