PMC6670163_01
Clinical phenotype of the patient. a At 24 months old, showing arched eyebrows, down-slanting palpebral fissures and a large and smooth philtrum. b At 15 years old, showing bifrontal narrowing, broad nose, thick and everted lips, a wide chin and large ears. c High, arched palate. d and e) Hypertrichosis of back and elbows. f Camptodactyly
13039_2019_438_Fig1_HTML.jpg
PMC6670163_01_13039_2019_438_Fig1_HTML.jpg
Fig1
His head circumference was 46 cm (Z-2.28), and he exhibited bifrontal narrowing, arched eyebrows, down-slanting palpebral fissures (Fig. 1a), bilateral retroauricular pits, global muscular hypotonia and normal external male genitalia. He has a large and smooth philtrum, thick and everted lips, a wide chin, large ears (Fig. 1b), a high and arched palate (Fig. 1c), hypertrichosis of the elbows and back (Fig. 1d and e) and camptodactyly (Fig. 1f).