title: The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I - a case report.
abstract: Trichorhinophalangeal syndrome type I is a rare autosomal dominant disorder characterized by cone-shaped epiphysis, sparse fine hair, pear-shaped nose and variable growth retardation. The typical craniofacial features include thin upper lip, elongated philtrum, large outstanding ears, shortened posterior facial height associated with short mandibular ramus and reduced and superiorly deflected posterior cranial base. This report describes a 17-year-old male patient with trichorhinophalangeal syndrome type I and a detailed description of the craniofacial radiographic findings, including the use of cone beam computed tomography images for determination of the airway and temporomandibular joint discrepancies.
authors.affiliation: Department of Orthodontics & Oral Facial Genetics, Indiana University School of Dentistry, 1121 West Michigan Street, Indianapolis, IN 46202, USA. aghoneim@iupui.edu
authors.forename: Ahmed
authors.initials: A
authors.lastname: Ghoneima
authors.forename: Kanwar
authors.initials: K
authors.lastname: Sachdeva
authors.forename: James
authors.initials: J
authors.lastname: Hartsfield
authors.forename: David
authors.initials: D
authors.lastname: Weaver
authors.forename: Katherine
authors.initials: K
authors.lastname: Kula
mesh_terms: D000293:Adolescent; D000402:Airway Obstruction / Q000000981:diagnostic imaging; D002508:Cephalometry / Q000379:methods; D054893:Cone-Beam Computed Tomography; D005147:Facial Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D006201:Hair Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000000981:diagnostic imaging*; D008297:Male; D009666:Nose / Q000002:abnormalities / Q000000981:diagnostic imaging; D013705:Temporomandibular Joint Disorders / Q000000981:diagnostic imaging