The Many Faces of Myhre - October 2019
Dr. Angela Lin, MSF Professional Advisory Board Chair
As I leave for a trip to China (10/19-10/29), I’ve been thinking about the many faces and places of Myhre syndrome.
Geneticists try to evaluate a person’s appearance with regard to factors such as their age, health, and parents’ ethnic heritage. In our MGH clinic series, there are several children who are Spanish or Portuguese speaking, and other children who are mixed racial (as is yours truly, Italian-Chinese!).
There are a few publications which show children from around the world.
Hong Kong, 2019 Chung et al., Clinical Dysmorphology
Mexico 2008 Becerra-Solano, et al., Clin Dysmorphology
Italy 2012 Caputo et al., AJHG
Turkey 2017 Erdem et al., Clinical Dysmorphology
I don’t see a striking difference compared to the people I know. Some are mild, others more different.
The NIH is trying to create an online collection of faces from around the world. Why don’t you check this important resource https://research.nhgri.nih.gov/atlas/ When you click on the link about syndromes, you will see that only a small number have photos, and currently, none for Myhre syndrome. Our research will help fill that gap. Looking ahead to 2020, we can consider adding photos. There is a consent form, of course.
In every language, thank you (xie xie, merci, gracias, obrigada, grazie!)
Angela E. Lin, MD
Staff Geneticist, MGH for Children