A new syndrome of microtia with unilateral renal agenesis and short stature
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.158A, no.8, pp.1837-1840, 2012 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 158A Issue: 8
- Publication Date: 2012
- Doi Number: 10.1002/ajmg.a.33653
- Journal Name: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.1837-1840
- Keywords: microtia, renal agenesis, syndrome
- Dokuz Eylül University Affiliated: No
Abstract
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. (C) 2012 Wiley Periodicals, Inc.