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velocardiofacial syndrome


Definition: a syndrome with hypernasal speech, dysmorphic facial features (long midface, cylindric nose, downward turned corners of mouth), and cardiac abnormalities; same chromosomal abnormality as seen in DiGeorge syndrome (q.v.) (a microdeletion in chromosome 22q11); dominant inheritance.

Synonym(s): Shprintzen syndrome

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.