Figure 1
From: Coffin–Lowry syndrome
(a–d) Facial views of a boy with CLS at different ages showing evolution during infancy of facial gestalt. (a) At 9 months, (b) at 18 months, (c) at 3 years, and (d) at 6 years. Note the large forehead, hypertelorism, downslanting palpebral fissures, long philtrum, anteverted nares, and thick lips. This boy carries an RPS6KA3 intragenic duplication previously reported.16 (e–g) Views of the hands of the same patient. Note the typical broad tapering fingers (e) at 9 months, (f) at 18 months, and (g) at 5 years.
