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

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


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.

Publication types

  • Case Reports

MeSH terms

  • Body Height*
  • Child, Preschool
  • Congenital Abnormalities*
  • Congenital Microtia
  • Ear / abnormalities
  • Female
  • Humans
  • Kidney / abnormalities
  • Kidney Diseases / congenital*
  • Syndrome

Supplementary concepts

  • Hereditary renal agenesis