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Am J Med Genet A. 2012 Aug;158A(8):1837-40. doi: 10.1002/ajmg.a.33653. Epub 2012 Jun 18.

A new syndrome of microtia with unilateral renal agenesis and short stature.

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Department of Medical Genetics, Kayseri Education and Research Hospital, Kayseri, Turkey.


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.

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