title: Facial abnormalities in Nablus mask-like facial syndrome: multidetector computed tomography findings.
abstract: 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.
authors.affiliation: Professor, Department of Biomedical Sciences and Morphological and Functional Imaging, University of Messina, Policlinico "G. Martino", Messina, Italy.
authors.forename: Silvio
authors.initials: S
authors.lastname: Mazziotti
authors.affiliation: Resident, Department of Biomedical Sciences and Morphological and Functional Imaging, University of Messina, Policlinico "G. Martino", Messina, Italy. Electronic address: tommasodang@gmail.com.
authors.forename: Tommaso
authors.initials: T
authors.lastname: D'Angelo
authors.affiliation: Professor, Department of Biomedical Sciences and Morphological and Functional Imaging, University of Messina, Policlinico "G. Martino", Messina, Italy.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Ascenti
authors.affiliation: Professor, Department of Biomedical Sciences and Morphological and Functional Imaging, University of Messina, Policlinico "G. Martino", Messina, Italy.
authors.forename: Alfredo
authors.initials: A
authors.lastname: Blandino
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000503:physiopathology / Q000601:surgery; D016569:Blepharophimosis / Q000000981:diagnostic imaging* / Q000503:physiopathology / Q000601:surgery; D002648:Child; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging* / Q000503:physiopathology / Q000601:surgery; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D014057:Tomography, X-Ray Computed / Q000379:methods*