TY - JOUR
T1 - A new syndrome of microtia with unilateral renal agenesis and short stature
AU - Caglayan, Ahmet Okay
AU - Stevens, Servi J. C.
AU - Albrechts, Jozefa C. M.
AU - Dundar, Munis
AU - Engelen, John
PY - 2012/8
Y1 - 2012/8
N2 - 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.
AB - 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.
KW - microtia
KW - renal agenesis
KW - syndrome
U2 - 10.1002/ajmg.a.33653
DO - 10.1002/ajmg.a.33653
M3 - Article
C2 - 22711661
SN - 1552-4825
VL - 158A
SP - 1837
EP - 1840
JO - American Journal of Medical Genetics Part A
JF - American Journal of Medical Genetics Part A
IS - 8
ER -