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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.

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Figure 2.

Figure 2.


2a. Female age 2.5 years; square face, round eye, straight nose with broad nasal root, unilateral facial palsy

2b. Female age five years; mild expression of CHARGE facies; relatively square face, prominent columella of the nose. Note sloping shoulders.

2c. Male age seven years; square face, somewhat broad nasal root. Note prominent ear with unfolded helix and wide neck.

2d. Female age nine years; square face, round eyes, wide neck, sloping shoulders. Note lack of facial expression as a result of bilateral facial palsy.

2e. Male age 15 years. Note longer but still somewhat square face, wide neck with sloping shoulders.

2f. Female age 18 years; square, asymmetric face, prominent ears, head tilted back, wide neck, and sloping shoulders

From: CHD7 Disorder

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