Distal monosomy 1q

1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.

Smooth philtrum

Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.


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