Journal of Human Genetics - Retinoblastoma and mental retardation microdeletion syndrome: ... thick and everted ear lobes, short nose, prominent philtrum and thick everted lower lip ...

Craniofacial appearance is characterized by blond thin hairs, high forehead, sparse eyebrows, blepharophimosis with palpebral ptosis, short nose, open mouth with everted upper lip, high-arched ...