title: Cleidocranial dysplasia syndrome (CCD) with an unusual finding in a young patient.
abstract: Cleidocranial dysplasia (CCD), an autosomal dominant disorder with a prevalence of 1 in 1,000,000 individuals, presents with a wide range of variability. Dentists are often the first to encounter patients with CCD, some of whom do not show typical manifestations. Since it has similar features to other pathologies, CCD is misdiagnosed as other conditions. A 10-year-old boy suffering from CCD was misdiagnosed as having rickets and was referred for non-eruption of a few permanent teeth along with an unaesthetic facial appearance. Clinically and radiologically, a diagnosis of CCD was made. Currently, management of this patient's orofacial manifestations is underway.
authors.affiliation: Department of Paediatric Dentistry, Himachal Pradesh Government Dental College, Shimla, Himachal Pradesh, India.
authors.forename: Parul
authors.initials: P
authors.lastname: Singhal
authors.affiliation: Himachal Pradesh Government Dental College, Shimla, Himachal Pradesh, India.
authors.forename: Anita
authors.initials: A
authors.lastname: Singhal
authors.affiliation: Department of Paediatric Dentistry, Himachal Pradesh Government Dental College, Shimla, Himachal Pradesh, India.
authors.forename: Cheranjeevi
authors.identifier: http://orcid.org/0000-0003-1550-7077
authors.initials: C
authors.lastname: Jayam
authors.affiliation: Department of Conservative Dentistry and Endodontics, Himachal Dental College, Shimla, Himachal Pradesh, India.
authors.forename: Anila
authors.initials: A
authors.lastname: Bandlapalli
mesh_terms: D059327:Brachydactyly / Q000175:diagnosis; D002648:Child; D002973:Cleidocranial Dysplasia / Q000175:diagnosis*; D003937:Diagnosis, Differential; D019066:Facies; D006801:Humans; D008297:Male; D012279:Rickets / Q000175:diagnosis*; D014097:Tooth, Unerupted / Q000175:diagnosis* / Q000601:surgery