Ahmet Okay Caglayan, Servi J. C. Stevens, Jozefa C. M. Albrechts, Munis Dundar, John Engelen
American Journal of Medical Genetics Part A. 158A: 1837-1840.
Publication year: 2012

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.