A cephalometric evaluation of craniofacial morphology in familial dysautonomia.
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.


METHODS
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).


METHODS
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.
Mass
E
E
Department of Pediatric Dentistry, The Maurice and Gabriela Goldschleger School of Dental Medicine, Tel Aviv University, Israel. elimas@post.tau.ac.il
Brin
I
I
Belostoky
L
L
Maayan
C
C
Gadoth
N
N
D000328:Adult; D002508:Cephalometry; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000209:etiology / Q000473:pathology; D004402:Dysautonomia, Familial / Q000150:complications* / Q000473:pathology*; D019066:Facies; D005260:Female; D006801:Humans; D007180:Incisor / Q000002:abnormalities; D007585:Jews; D008297:Male; D008310:Malocclusion / Q000209:etiology; D008445:Maxillofacial Development; D012016:Reference Values; D063173:Retrognathia / Q000209:etiology* / Q000473:pathology*