title: A mentally retarded female with distinct facial dysmorphism, joint laxity, clinodactyly and abnormal dermatoglyphics.
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.
authors.affiliation: Dipartimento di Scienze Pediatriche e dell'Adolescenza, Servizio di Genetica Clinica, Università di Torino, Turin, Italy. francesc@pediatria.unito.it
authors.forename: P
authors.initials: P
authors.lastname: Franceschini
authors.forename: A
authors.initials: A
authors.lastname: Guala
authors.forename: D
authors.initials: D
authors.lastname: Besana
authors.forename: D
authors.initials: D
authors.lastname: Licata
authors.forename: G
authors.initials: G
authors.lastname: Di Cara
authors.forename: D
authors.initials: D
authors.lastname: Franceschini
mesh_terms: 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