A new syndrome of microtia with mixed type hearing loss, renal agenesis, and multiple skeletal anomalies

American Journal of Medical Genetics. Part a
Yavuz DemirMustafa Solak

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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Citations

Jun 20, 2012·American Journal of Medical Genetics. Part a·Ahmet Okay CaglayanJohn Engelen
Nov 14, 2008·Otolaryngologia polska. The Polish otolaryngology·Agnieszka GarsteckaKatarzyna Skonieczka

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