FaceBase Developing 3D Craniofacial Morphometry Data and Tools to Transform Dysmorphology Richard A. Spritz, MD Ophir Klein, MD, PhD Benedikt Hallgrimsson, PhD

Overview What is FaceBase? Previous Work Purpose Our Goals How to Participate – 3D Photos What will happen to the data we collect?

What is FaceBase? A group of research teams around the country studying facial development and facial characteristics.

Previous Work  FaceBase1 We studied genetic data and facial shape in Tanzanian children We showed that 3D photos could distinguish altered facial development from normal

Diagnostic Methods can be Improved Not sufficiently objective - Syndrome descriptions sometimes unclear Measurement Error - Manual measures are not very accurate or precise Limited Technology -Some 2D and 3D photos -Imprecise landmarking

Our Goals Library of 3D Facial Scans Diagnostic Aid for Physicians and Scientists “Quantitative Science”

1.Dense Surface Modeling 2.Geometric Morphometrics Automated facial landmarking Combine these analytical tools Apply to Clinical Practice! Storage, William. Augustus Once And For All Spritz et al How Does it Work?

Sign up for an appointment Sign consent forms: - I will go over the consent form with you - HIPAA, Patient Bill of Rights -Medical Information Form Includes consent for “data-sharing”; De-identified photos and data to be deposited in NIH FaceBase “Hub” database. May be shared to qualified researchers approved by NIH “Data Access Committee”. What will I need to do?

1.4 Face views will be collected 2.Tie hair back 3.Sit still just like for a normal picture 4. About minutes total 5.Each participant will be given an anonymous study number to preserve confidentiality 3D Photos: How to Participate

1.We will take your 3D photo 2. We will analyze the 3D image 3. We will place anatomic landmarks on the 3D image 4. We will analyze the 3D images of patients with a specific known syndrome to define features characteristic of each syndrome 5. We will develop methods to distinguish among different syndromes What will happen to my Photo and Data?

Key Points FaseBase2 is a research study, and is part of a larger international project We aim to improve how we diagnose genetic syndromes that include atypical facial development We need participants to take 3D Photos Let me know if you are interested and sign up for an appointment!

Thank you! Are there any questions?

Study Contact Information: NamePhone / Address Richard A. Spritz, MD Anschutz Medical Campus University of Colorado, Denver TEL FAX E. 19th Ave., Rm. 3100, MS8300 Aurora, CO USA Ophir Klein, MD PhD School of Dentistry University of California, San Francisco TEL FAX Parnassus Avenue Box 0442 San Francisco, CA Benedikt Hallgrimsson, PhD Department of Cell Biology and Anatomy University of Calgary TEL FAX Rm G503, Health Sciences Centre, 3330 Hospital Drive, NW Calgary, AB T2N 4N1 Elizabeth Beals, BS Study Coordinator University of California, San Francisco TEL CEL