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

ÇAĞLAYAN A. O., Stevens S. J. C., Albrechts J. C. M., DÜNDAR M., Engelen J.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.158A, sa.8, ss.1837-1840, 2012 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 158A Sayı: 8
  • 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, INNER-EAR, EPIDEMIOLOGY, MUTATIONS, ANOMALIES, ANOTIA
  • Dokuz Eylül Üniversitesi Adresli: Hayır

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.