Facial dysmorphology is considered to be a major diagnostic feature in patients with Williams syndrome (WS). The dysmorphology is composed of soft tissue and skeletal components. In this study the skeletal component of the facial dysmorphology was examined by analyzing the lateral cephalometric radiographs of 8 children with WS. Seven anatomic areas were judged by means of the analysis of 48 cephalometric variables. Four skeletal features contributed to the facial appearance of children with WS: (1) the anterior cranial base was short, although the cranial base angle (N-S-Ba) was normal; (2) the angle of the mandibular plane was steep, although total facial height was normal; (3) despite the normal facial height, there was an unusual proportion of upper to lower anterior facial height and posterior to anterior facial height; and (4) the chin button (pogonion to N-B line) was deficient, although the mandible could not be classified as retrognathic. The common skeletal components were not dominant enough to characterize the facial dysmorphology completely.

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.

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.

Facial dysmorphology is considered to be a major diagnostic feature in patients with Williams syndrome (WS). The dysmorphology is composed of soft tissue and skeletal components. In this study the skeletal component of the facial dysmorphology was examined by analyzing the lateral cephalometric radiographs of 8 children with WS. Seven anatomic areas were judged by means of the analysis of 48 cephalometric variables. Four skeletal features contributed to the facial appearance of children with WS: (1) the anterior cranial base was short, although the cranial base angle (N-S-Ba) was normal; (2) the angle of the mandibular plane was steep, although total facial height was normal; (3) despite the normal facial height, there was an unusual proportion of upper to lower anterior facial height and posterior to anterior facial height; and (4) the chin button (pogonion to N-B line) was deficient, although the mandible could not be classified as retrognathic. The common skeletal components were not dominant enough to characterize the facial dysmorphology completely.

Oro-dental abnormalities are quite frequent in familial dysautonomia. The practitioner should be familiar with this disorder, which represents a "human model" for chronic progressive oro-dental denervation. Self-injurious behavior is caused mainly by profound sensory loss. An appropriate preventive and therapeutic approach that was developed in our clinic and adapted for the special hazards of dentistry in youngsters with systemic autonomic dysfunction may improve the life quality of this particular population.