A new syndrome of microtia with unilateral renal agenesis and short stature
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, sa.8, ss.1837-1840, 2012 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Basım Tarihi: 2012
- Doi Numarası: 10.1002/ajmg.a.33653
- Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.1837-1840
- Anahtar Kelimeler: microtia, renal agenesis, syndrome
- Erciyes Üniversitesi Adresli: Evet
Özet
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.