Fig. 1.

Phenotype and molecular features of the 2 probands with KDVS. a Proband 1: facial dysmorphisms such as low-set ears, long face, a bulbous nasal tip are shown. Proband 2: dysmorphic features including a long face, lop/cupped ears, and a bulbous nose are shown. b CMA of the 17q21.31 microdeletion. CMA data from proband 1 and proband 2 showing a de novo 0.56-Mb and 0.51-Mb microdeletion, respectively, indicated by red blocks.