Koala Bear Syndrome

A fanciful synonym for the physiognomy of the autosomal dominant [MIM 118650] Conradi-Hünermann syndrome, which is characterised by a flat face and nasal bridge, hypoplastic nose and a mild mongoloid slant, ± accompanied by pulmonary calcifications, mental retardation, and right ventricular hypertrophy
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
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