Craniofacial characteristics in cri-du-chat syndrome

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2010 Dec;110(6):e38-44. doi: 10.1016/j.tripleo.2010.08.021.

Abstract

Objective: The purpose of this study was to analyze craniofacial characteristics from lateral head profile radiographs of patients with cri-du-chat (CdC) syndrome.

Study design: The craniofacial morphology of 10 CdC patients was evaluated using standard cephalometric methods, measuring 39 craniofacial variables on cephalometric x-ray images.

Results: The principal characteristics were skeletal class II malocclusion, caused by mandibular retrognathism, dental biprotrusion, and a small upper airway. Additionally, 70% of patients had a steep palatal plane angle; the cranial base angle was flattened, also in 70% of patients.

Conclusions: Results indicated that the deletion of 5p had an impact on the cranial base, maxilla, mandible, and upper airway, causing distinctive features to become apparent through irregular growth.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cephalometry / methods*
  • Chin / pathology
  • Craniofacial Abnormalities / diagnosis*
  • Cri-du-Chat Syndrome / complications*
  • Esthetics, Dental
  • Female
  • Humans
  • Male
  • Malocclusion, Angle Class II / diagnosis
  • Mandible / abnormalities
  • Maxilla / abnormalities
  • Maxillofacial Development / physiology
  • Nasal Bone / pathology
  • Palate / abnormalities
  • Pharynx / abnormalities
  • Photography
  • Radiography, Dental, Digital
  • Retrognathia / diagnosis
  • Skull Base / pathology
  • Vertical Dimension
  • Young Adult