Figure 1

Photographs of patients 1–8. Facial features of patients 1–8 are shown at the age of 1 day (patient 1), 9 months (patient 2, ear at 3 days), 19 months (patient 3), 7 months (patient 5), 16 months (patient 6), 5 years (patient 7), 14 months (patient 8), ears are depicted in the bottom row. Apart from microcephaly, patients 5 and 6 show epicanthal folds and a long philtrum, patient 8 a flat smooth philtrum, patients 1, 5 and 6 a broad and patient 7 a prominent nasal bridge, patient 1 a bulbous tip of nose, patients 1 and 5 retromicrognathia, and patients 1, 2, 3 and 5 fleshy, uplifted ear lobules. There seems to be no recognizable facial phenotype.