Situs inversus totalis with accompanying craniodiaphysial dysplasia: a new syndrome?
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.
Ozturk
Serdar
S
Department of Plastic and Reconstructive Surgery, Gulhane Military Medical Academy, Ankara, Turkey.
Zor
Fatih
F
Coskun
Unsal
U
Gul
Davut
D
Duzgun
Serdar
S
Sengezer
Mustafa
M
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