Two brothers with atypical syndactylies, cerebellar atrophy and severe mental retardation.

Détails

ID Serval
serval:BIB_24700
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Two brothers with atypical syndactylies, cerebellar atrophy and severe mental retardation.
Périodique
Genetic Counseling
Auteur⸱e⸱s
Schorderet D.F., Addor M.C., Maeder P., Roulet E., Junier L.
ISSN
1015-8146
Statut éditorial
Publié
Date de publication
2002
Peer-reviewed
Oui
Volume
13
Numéro
4
Pages
441-447
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Résumé
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.
Mots-clé
Abnormalities, Multiple, Adult, Cerebellum, Female, Humans, Infant, Newborn, Karyotyping, Magnetic Resonance Imaging, Male, Mental Retardation, Syndactyly, Syndrome
Pubmed
Web of science
Création de la notice
19/11/2007 12:20
Dernière modification de la notice
20/08/2019 13:02
Données d'usage