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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Figure 1.

Figure 1.

Three individuals with Au-Kline syndrome

A-C. Proband 1 at age 14 months, age eight years, and age 19 years. Note long palpebral fissures, prominent eyes and shallow orbits, broad nasal ridge, and M-shaped Cupid's bow to upper lip.

D. High-arched palate with bifid uvula and deeply grooved tongue present in Proband 1 at age 19 years.

E-G. Proband 2 at age 12 months, age eight years, and age 11 years. Note presence of metopic ridging, long palpebral fissures with subtle lateral eversion, and characteristic shape to nose and mouth.

H-I. Proband 3 at age seven years. Note deep midline groove in the tongue.

Adapted from Au et al [2018]

From: Au-Kline Syndrome

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