A Cephalometric Evaluation of Craniofacial Morphology in Familial Dysautonomia

Abstract

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 dys-autonomic 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 cephalo-metric 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 dentoal-veolar 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.

A review of the oro‐dento‐facial characteristics of hereditary sensory and autonomic neuropathy type III (familial dysautonomia)

“…These findings, in addition to the lack of coordination of the oral and peri‐oral muscle activity, have indicated that most patients with FD have moderate to severe malocclusions of the kind that hinder normal mastication, swallowing, and speech 21 . A cephalometric evaluation of craniofacial morphology of children with FD further confirmed these observations 25 …”

“…In addition to short stature and skeletal deformities, the craniofacial morphology of patients with FD is significantly different, in some parameters, from the “classical” accepted norms, but resembles those of patients of the same ethnic origin (Jews of Eastern European origin) 25 . However, despite the overall resemblance, the mandible is retro‐gnathic and has a steep plane angle and its growth axis is more horizontal.…”

“…However, despite the overall resemblance, the mandible is retro‐gnathic and has a steep plane angle and its growth axis is more horizontal. The incisors are more retropositioned and retroclined than those of their healthy counterparts 25 . These findings may affect the treatment decisions of orthodontists and the airway management techniques of healthcare providers and anesthesiologists.…”

“…In most healthy individuals, skeletal deformities do not affect normal functions of mastication and swallowing, due to a compensatory mechanism that helps to bridge those discrepancies. Based on the characteristic features of FD, it has been suggested 25 that the oral and peri‐oral soft tissues comprising tongue, lips, and cheeks are affected by the neuropathy, and therefore, do not allow for this normal dento‐alveolar compensatory mechanism. The alveolar bone height does not differ from that of healthy controls 26…”

“…It wa later delineated as pale, gray, and shiny (due to continuous sweating), with suffering expression; frontal bossing, sometimes with hypertelorism and narrow lips, especially the upper lip upon smiling 39 . An attempt to relate the typic facial appearance by delineating the underlying bony structure revealed a similarity to the ethnic group in which FD is most often diagnosed 25 …”