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

Ahmet Okay Caglayan*, Servi J. C. Stevens, Jozefa C. M. Albrechts, Munis Dundar, John Engelen

*Corresponding author for this work

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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.
Original languageEnglish
Pages (from-to)1837-1840
JournalAmerican Journal of Medical Genetics Part A
Volume158A
Issue number8
DOIs
Publication statusPublished - Aug 2012

Keywords

  • microtia
  • renal agenesis
  • syndrome

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