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


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

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ss.1837-1840, 2012 (SCI İndekslerine Giren Dergi)

  • Basım Tarihi: 2012
  • Doi Numarası: 10.1002/ajmg.a.33653
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Sayfa Sayısı: ss.1837-1840

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.