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Photograph of the patient at age 13 months (a, b) and 10.5 years (c, d). Note in a the sparse hair, short nose microstomia, short neck, and in b the hypoplastic nails, and in c and d the triangular face, slightly down-turned palpebral fissures, low-set and posteriorly rotated ears, long philtrum, thin upper lips, everted lower lip, small chin, retrognathism, and short neck.
