PMC4023700_01
Facial appearance of the patient at the age of 16. Note brilliant blue irides, hypertelorism, dystopia canthorum, hirsutism.
1755-8166-7-30-1.jpg
PMC4023700_01_1755-8166-7-30-1.jpg
F1
Phenotype examination at the genetic counselling centre revealed the presence of wide set eyes of brilliant blue irides, dystopia canthorum, shortened upslanting palpebral fissures, hypoplastic alae nasi, hirsutism (Figure 1).