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Phenotypic characteristics of the proband include (A) mild craniofacial dysmorphisms including round face, down-slanted palpebral fissures, ptosis of the left eyelid, short, upturned nose, and small, low-set ears, (B) bilateral metatarsus adductus (partially corrected clubfeet), and (C) mild flexion contractures of the fingers, brachydactyly, and clinodactyly.
