The use of cone beam computed tomography for the assessment of trichorhinophalangeal syndrome, type I-a case report

Ahmed Ghoneima, Kanwar Sachdeva, James Hartsfield, David Weaver, Katherine Kula

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)47-52
Number of pages6
JournalJournal of Orthodontics
Volume40
Issue number1
DOIs
StatePublished - Mar 2013

Keywords

  • Cone beam computed tomography
  • Trichorhinophalangeal syndrome

ASJC Scopus subject areas

  • Orthodontics

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