title: Skeletal and cranio-facial signs in Gorlin syndrome from ancient Egypt to the modern age: sphenoid asymmetry in a patient with a novel PTCH1 mutation.
abstract: Gorlin syndrome is an autosomal dominant disorder linked to PTCH1 mutation, identified by a collection of clinical and radiologic signs. We describe the case of a family in which father and son fulfilled clear cut diagnostic criteria for Gorlin syndrome including multiple basal cell carcinomas, keratocystic odontogenic tumors, atypical skeletal anomalies and a novel PTCH1 germline mutation (c.1041delAA). Craniofacial and other skeletal anomalies displayed at 3D and helical CT scan were: macrocephaly, positional plagiocephaly, skull base and sphenoid asymmetry, bifidity of multiple ribs and giant multilocular odontogenic jaw cysts. Extensive multilamellar calcifications were found in falx cerebri, tentorium, falx cerebelli and in the atlanto-occipital ligament. The inclusion of bifid ribs as a novel major criteri may be useful for the recognition and characterization of misdiagnosed cases.
authors.affiliation: Department of Diagnostic & Clinical Medicine & Public Health, University of Modena & Reggio Emilia, Modena, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Ponti
authors.forename: Cristel
authors.initials: C
authors.lastname: Ruini
authors.forename: Lorenza
authors.initials: L
authors.lastname: Pastorino
authors.forename: Pietro
authors.initials: P
authors.lastname: Loschi
authors.forename: Annarita
authors.initials: A
authors.lastname: Pecchi
authors.forename: Marcella
authors.initials: M
authors.lastname: Malagoli
authors.forename: Victor Desmond
authors.initials: VD
authors.lastname: Mandel
authors.forename: Rosa
authors.initials: R
authors.lastname: Boano
authors.forename: Andrea
authors.initials: A
authors.lastname: Conti
authors.forename: Giovanni
authors.initials: G
authors.lastname: Pellacani
authors.forename: Aldo
authors.initials: A
authors.lastname: Tomasi
mesh_terms: D000293:Adolescent; D000368:Aged; D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis* / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities; D002648:Child; D019465:Craniofacial Abnormalities; D005260:Female; D006579:Heterozygote; D006801:Humans; D021621:Imaging, Three-Dimensional; D008297:Male; D009154:Mutation; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D010375:Pedigree; D011956:Receptors, Cell Surface / Q000235:genetics*; D012886:Skull / Q000002:abnormalities; D013100:Sphenoid Bone / Q000002:abnormalities; D014057:Tomography, X-Ray Computed
chemical_list: C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface
keywords: Gorlin–Goltz syndrome; PTCH1; bifid ribs; falx cerebri calcifications; nevoid basal cell carcinoma syndrome; sphenoid anomalies; volume CT scan