A de novo 7.6 Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay

We delineate a pure distal 14q duplication phenotype, characterized by primordial short stature, mild developmental delay, and distinct facial dysmorphism with high forehead, mild hypertelorism, broad nasal bridge, dysplastic ear helices, short philtrum, thin and cupid bow upper lip, broad mouth, and micrognathia. (C) 2008 Elsevier Masson SAS. All rights reserved.