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Rigid mask-like face, ear anomalies, deafness, preaxial polydactyly and toe malformations in a patient with normal
P Franceschini1, M P Vardeu, A Guala
1Istituto di Discipline Pediatriche, Università di Torino, Italy.
Clinical Dysmorphology
|July 1, 1994
Abstract:
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.