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FRANCESCHINI P.; VARDEU, M. P.; GUALA, A.; FRANCESCHINI, D.; SIGNORILE, F.; TESTA, A.
Clinical Dysmorphology: July 1994
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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. synectrodactyly of toes and first degree hypospadias.

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