Facial features are significant for deep-set eyes, prominent maxilla with overbite, downturned corners of mouth, broad central incisors with increased spacing, broad nasal root, full and everted lower lip and retrognathia. The patient has long, broad halluces and prominent fetal finger pads. She has a café-au-lait spot on the upper back and one on the left shin. Full written and informed consent was obtained for the use of the patient’s photographs and clinical data.