A cephalometric evaluation of craniofacial morphology in familial dysautonomia

Eliyahu Mass, Ilana Brin, Leon Belostoky, Channa Maayan, Natan Gadoth

Research output: Contribution to journalArticlepeer-review


Objective: The purpose of this study was to delineate the craniofacial and dentoalveolar morphology of patients with familial dysautonomia (FD) in order to contribute to the understanding of the association between progressive sensory and autonomic neuropathy and the characteristic appearance of the dysautonomic face. Patients: The study group comprised 32 patients with FD (15 females and 17 males; mean age 10.8 years, SD 3.5 years, range 5.8-19.8 years). Design: Lateral cephalograms from each patient were traced twice. The means of the two measurements were compared with homologous cephalometric normal values of ethnic-specific and classical norms from the literature. Results: In some parameters, the craniofacial morphology of the FD group was significantly different from the classical norms. There was a pronounced retrognathism in the mandible and a steep mandibular plane angle. The skeletal features of FD patients more closely resembled those of their ethnic group, although they were more retrognathic, and the mandibular growth axis was more horizontal. The incisors of these patients were more retropositioned and retroclined than were those of their healthy counterparts. Conclusions: The results suggest an insufficiency of the expected dentoalveolar compensatory mechanism that usually helps to bridge skeletal discrepancies. It is postulated that the neuropathy is probably the important factor in the lack of this compensatory mechanism.

Original languageEnglish
Pages (from-to)120-126
Number of pages7
JournalCleft Palate-Craniofacial Journal
Issue number2
StatePublished - Mar 1998


  • Cephalometrics
  • Facies
  • Familial dysautonomia
  • Mandible
  • Maxilla
  • Neuromuscular
  • Neuropathy


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