One sign of moon facies is that if you look at the patient directly, face to face, you can't see their ears. Other symptoms ...

The show is based on the real story of Natalia Grace, a Ukrainian girl born with spondyloepiphyseal dysplasia congenita.

For some young women, staring at their own faces online — in selfies, on social media, on video calls — has made them unrecognizable to themselves.

Twenty-six unrelated patients of African ancestry clinically suspected to have NF1 were recruited from Genetic clinics across the Gauteng province of South Africa and consented to participate in the ...