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A new syndrome of microtia with mixed type hearing loss, renal agenesis, and multiple skeletal anomalies
Authors:Demir Yavuz  Samli Hale  Yucel Aylin  Yilmaz M Deniz  Haktanir Nurten Turhan  Maralcan Gokhan  Solak Mustafa
Institution:Department of Plastic and Reconstructive Surgery, Afyon Kocatepe University, School of Medicine, Afyon, Turkey. ydemir@aku.edu.tr
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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