Fig. 1.

Facial features and pedigree of Subjects 1 and 2. ( A , B ) Subject 1 when she was 12 years, 1 month old. She had a myopathic face, high forehead, bulbous nasal tip, right-sided epicanthal fold, hypertelorism, long, smooth philtrum, and a hemangioma on her left cheek. ( C , D ) Subject 2 when he was 7 years, 10 months old. He had a myopathic face, high forehead, bulbous nasal tip, hypertelorism, down-slanting palpebral fissures, and a long smooth philtrum. ( E ) Pedigree showing subjects 1 and 2 along with the ADAT3 variants they inherited from their unrelated mother and father. ADAT3, adenosine deaminase, tRNA specific 3 gene.