A new syndrome of microtia with unilateral renal agenesis and short stature.
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.
Department of Medical Genetics, Kayseri Education and Research Hospital, Kayseri, Turkey. okaycaglayan@yahoo.com
Ahmet Okay
AO
Caglayan
Servi J C
SJ
Stevens
Jozefa C M
JC
Albrechts
Munis
M
Dundar
John
J
Engelen
D001827:Body Height; D002675:Child, Preschool; D000013:Congenital Abnormalities; D065817:Congenital Microtia; D004423:Ear / Q000002:abnormalities; D005260:Female; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D007674:Kidney Diseases / Q000151:congenital*; D013577:Syndrome