Fig. 1

Fig. 1. From: CHD7 mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome.

Lateral view of patient 2. Note the dysmorphic ears with absence of the earlobe and the lower helical fold, and a triangular concha. These dysmorphism are typical for CHARGE syndrome.

MCJ Jongmans, et al. Clin Genet. ;75(1):65-71.

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