| A recently described syndrome with characteristics of developmental delay, hypotonia and facial dysmorphism. It has been clinically and molecularly described in 3 patients. All three children have similar dysmorphic features, including widely-spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid's bow, full lower lip and similar auricular anomalies. This syndrome is caused by an interstitial deletion encompassing 14q11.2. |
