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A mentally retarded female with distinct facial dysmorphism, joint laxity, clinodactyly and abnormal dermatoglyphics.

Authors :
Franceschini P
Guala A
Besana D
Licata D
Di Cara G
Franceschini D
Source :
Genetic counseling (Geneva, Switzerland) [Genet Couns] 2002; Vol. 13 (1), pp. 55-8.
Publication Year :
2002

Abstract

We describe a retarded female patient with distinct facial dysmorphism (round puffy cheeks, epicanthal folds, ocular hypertelorism, short broad nose, low set and slanted ears), joint laxity, clinodactyly, abnormal dermatoglyphics (bilateral absence of c palmar triradius and single palmar crease) and a peculiar metacarpophalangeal profile. The possibility of a new MCA/MR is discussed.

Details

Language :
English
ISSN :
1015-8146
Volume :
13
Issue :
1
Database :
MEDLINE
Journal :
Genetic counseling (Geneva, Switzerland)
Publication Type :
Academic Journal
Accession number :
12017239