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A new syndrome of microtia with unilateral renal agenesis and short stature
Author(s) -
Caglayan Ahmet Okay,
Stevens Servi J.C.,
Albrechts Jozefa C.M.,
Dundar Munis,
Engelen John
Publication year - 2012
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.33653
Subject(s) - microtia , short stature , renal agenesis , medicine , agenesis , anatomy , pediatrics , kidney
We report on a 13‐month‐old girl of first cousin parents who presented with a combination of short stature, bilateral microtia, proportionate short stature, distinctive facial features (bitemporal narrowing, long philtrum), and agenesis of the left kidney and a small right kidney. Clinical findings did not match any previously described syndromes with the anomalies seen in the patient. We performed SNP array analysis to characterize the observation as a novel syndrome and this was normal. We propose that this represents a new syndrome, likely of autosomal recessive inheritance. © 2012 Wiley Periodicals, Inc.