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Filippi syndrome: a specific MCA/MR complex within the spectrum of so called "craniodigital syndromes". Report of an additional patient with a peculiar mpp and review of the literature.

Authors :
Franceschini P
Licata D
Guala A
Di Cara G
Franceschini D
Source :
Genetic counseling (Geneva, Switzerland) [Genet Couns] 2002; Vol. 13 (3), pp. 343-52.
Publication Year :
2002

Abstract

Filippi syndrome is a specific Multiple Congenital Abnormalities/Mental Retardation (MCA/MR) complex which must not be confused with other so called "craniodigital syndromes", a heterogeneous group of pathological conditions simply lumped for the combination of different cranial and digital anomalies. We report on a new patient with the characteristic features of Filippi syndrome, comparing him with other reported cases and underlining the peculiar and specific shape of the nasal bridge. The metacarpophalangeal profile in our patient is also quite unusual and could be, if confirmed, a good marker of this syndrome.

Details

Language :
English
ISSN :
1015-8146
Volume :
13
Issue :
3
Database :
MEDLINE
Journal :
Genetic counseling (Geneva, Switzerland)
Publication Type :
Academic Journal
Accession number :
12416644