A new autosomal dominant craniofacial deafness syndrome |
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Authors: | S. Kassutto Z. Kassutto T. Ben-Ami R. M. Goodman |
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Affiliation: | Department of Medical Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel. |
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Abstract: | A Jewish family is reported in which the proband and her father had congenital hearing loss and unusual facies consisting of facial asymmetry, temporal alopecia with frontal bossing, a broad nasal root and small nasal alae. In addition, both were born with a short frenulum of the tongue. We believe these findings represent a new autosomal dominant deafness syndrome with distinct craniofacial features. |
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Keywords: | autosomal dominant syndrome craniofacial syndrome deafness syndrome new genetic disorder |
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