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  • Title: Rigid mask-like face, ear anomalies, deafness, preaxial polydactyly and toe malformations in a patient with normal intelligence: a new entity?
    Author: Franceschini P, Vardeu MP, Guala A, Franceschini D, Signorile F, Testa A.
    Journal: Clin Dysmorphol; 1994 Jul; 3(3):234-7. PubMed ID: 7981859.
    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.
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