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A new syndrome of microtia with mixed type hearing loss, renal agenesis, and multiple skeletal anomalies
Author(s) -
Demir Yavuz,
Samli Hale,
Yucel Aylin,
Yilmaz M. Deniz,
Haktanir Nurten Turhan,
Maralcan Gokhan,
Solak Mustafa
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31147
Subject(s) - microtia , syndactyly , renal agenesis , medicine , agenesis , hearing loss , synostosis , anatomy , conductive hearing loss , surgery , audiology , kidney
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. © 2006 Wiley‐Liss, Inc.