Rigid mask-like face, ear anomalies, deafness, preaxial polydactyly and toe malformations in a patient with normal intelligence: a new entity?
We describe a patient with deafness, normal intellect and a unique phenotype characterized by a rigid mask-like face, narrow, upslanting palpebral fissures, flat malar bones, thick lower lip, malformed auricles, preaxial polydactyly with triphalangeal thumbs, syn-ectrodactyly of toes and first degree hypospadias.
Franceschini
P
P
Istituto di Discipline Pediatriche, Università di Torino, Italy.
Vardeu
M P
MP
Guala
A
A
Franceschini
D
D
Signorile
F
F
Testa
A
A
D000015:Abnormalities, Multiple / Q000145:classification*; D000293:Adolescent; D000328:Adult; D003638:Deafness; D004423:Ear / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007021:Hypospadias; D007360:Intelligence; D008297:Male; D017689:Polydactyly; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*