Photographs of individuals with NOTCH3-related lateral meningocele syndrome

A-D. Patient 1 at age 24 years:

Facial features with arched eyebrows, ptosis, flat midface, thin upper lip, low-set and posteriorly angulated ears, and low posterior hairline

Hands with short and wide distal second and third fingers (pseudo-clubbing)

E-G. Patient 20 at ages 13 years (E) and four years (F,G):

Facial features at age 13 years similar to those at age four years with coarse and curly hair, tall forehead, high arched brows, ptosis, midfacial hypoplasia, long flat philtrum and thin upper lip, micrognathia, and low-set ears

H-I. Patient 26 at age six years:

Facial features showing a high forehead, shallow supraorbital ridges with arched eyebrows, ptosis, flat midface, thin and tented upper lip, low-set and posteriorly angulated ears, low posterior hairline, and a submandibular scar with keloid formation

Reproduced with permission from Gripp et al [2015]