A mentally retarded female with distinct facial dysmorphism, joint laxity, clinodactyly and abnormal dermatoglyphics.
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.
Franceschini
P
P
Dipartimento di Scienze Pediatriche e dell'Adolescenza, Servizio di Genetica Clinica, Università di Torino, Turin, Italy. francesc@pediatria.unito.it
Guala
A
A
Besana
D
D
Licata
D
D
Di Cara
G
G
Franceschini
D
D
D000015:Abnormalities, Multiple; D003878:Dermatoglyphics; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D007593:Joint Instability; D008662:Metacarpophalangeal Joint / Q000002:abnormalities*; D013577:Syndrome