Facial Abnormalities in Nablus Mask-Like Facial Syndrome: Multidetector Computed Tomography Findings

Nablus mask-like facial syndrome (NMLFS) is a rare microdeletion syndrome characterized by a mask-like facial appearance. NMLFS has been reported in only 6 patients and has a recognizable facial appearance, along with other clinical features. The first case of NMLFS has been described by Teebi in 2000, in a 4-year-old Palestinian boy. Three years later, Salpietro et al reported a second example of NMLFS in a 21-month-old girl. The same patient recently came to our hospital to undergo a computed tomography (CT) study to evaluate the degree of development of the zygomatic-maxillary region for orthodontic treatment and orthognathic surgery. To the best of our knowledge, no reports have previously illustrated the maxillofacial CT findings of NMLFS in the radiologic data. We report the multidetector CT (MDCT) facial characteristics/abnormalities of this syndrome, emphasizing the usefulness of multiplanar reformations (MPRs) in preoperative planning.