title: Situs inversus totalis with accompanying craniodiaphysial dysplasia: a new syndrome?
abstract: A 20-year-old man with craniofacial anomalies of craniodiaphysial dysplasia (CDD), facial paralysis, mental retardation, and situs inversus totalis is described. Similar features except situs inversus totalis are also present in two of his sisters. The authors believe this to be the first reported case of CDD with accompanying situs inversus totalis.
authors.affiliation: Department of Plastic and Reconstructive Surgery, Gulhane Military Medical Academy, Ankara, Turkey.
authors.forename: Serdar
authors.initials: S
authors.lastname: Ozturk
authors.forename: Fatih
authors.initials: F
authors.lastname: Zor
authors.forename: Unsal
authors.initials: U
authors.lastname: Coskun
authors.forename: Davut
authors.initials: D
authors.lastname: Gul
authors.forename: Serdar
authors.initials: S
authors.lastname: Duzgun
authors.forename: Mustafa
authors.initials: M
authors.lastname: Sengezer
mesh_terms: D000293:Adolescent; D000328:Adult; D003966:Camurati-Engelmann Syndrome / Q000000981:diagnostic imaging / Q000473:pathology*; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D006801:Humans; D015576:Hyperostosis / Q000000981:diagnostic imaging / Q000473:pathology*; D008607:Intellectual Disability; D008297:Male; D010026:Osteosclerosis / Q000000981:diagnostic imaging / Q000473:pathology; D011859:Radiography; D012857:Situs Inversus; D013577:Syndrome