Rigid maskhyphen;like facecomma; ear anomaliescomma; deafnesscomma; preaxial polydactyly and toe malformations in a patient with normal intelligencea new entityquest;

摘要

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.