Two brothers with atypical syndactylies, cerebellar atrophy and severe mental retardation.
Details
Serval ID
serval:BIB_24700
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Two brothers with atypical syndactylies, cerebellar atrophy and severe mental retardation.
Journal
Genetic Counseling
ISSN
1015-8146
Publication state
Published
Issued date
2002
Peer-reviewed
Oui
Volume
13
Number
4
Pages
441-447
Language
english
Notes
Publication types: Case Reports ; Journal Article
Abstract
Two brothers with a combination of atypical syndactylies, cerebellar atrophy and severe mental retardation are described. These cases share important features with the group of craniodigital syndromes and could represent new occurrences of Filippi syndrome. Cerebellar atrophy may represent a yet unreported finding in this syndrome.
Keywords
Abnormalities, Multiple, Adult, Cerebellum, Female, Humans, Infant, Newborn, Karyotyping, Magnetic Resonance Imaging, Male, Mental Retardation, Syndactyly, Syndrome
OAI-PMH
Pubmed
Web of science
Create date
19/11/2007 13:20
Last modification date
20/08/2019 14:02
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