A new syndrome of microtia with mixed type hearing loss, renal agenesis, and multiple skeletal anomalies |
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Authors: | Demir Yavuz Samli Hale Yucel Aylin Yilmaz M Deniz Haktanir Nurten Turhan Maralcan Gokhan Solak Mustafa |
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Institution: | Department of Plastic and Reconstructive Surgery, Afyon Kocatepe University, School of Medicine, Afyon, Turkey. ydemir@aku.edu.tr |
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Abstract: | We report on a 17-year-old man who presented with unreported combination of right sided microtia and preauricular skin tag with conductive hearing loss, unilateral renal agenesis, partial syndactyly of forth and fifth metacarpals, multiple tarsal coalitions, absent toe, and hypoplastic tibia and fibula. Radiological and clinical findings did not match with the previously described syndromes with the type of anomalies seen in the case. We propose that this represents a new syndrome. |
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