Clinical study of dentocraniofacial characteristics in patients with Williams syndrome

Abstract

Williams syndrome (WS) is a rare congenital anomaly that is characterized by distinctive facial features, congenital heart disease, and behavioral characteristics that include mental retardation. However, only a few reports have documented the dentocraniofacial morphological characteristics of WS in Japanese individuals. The aim of this study was to analyze the dentocraniofacial morphology and growth patterns in a group of nine Japanese subjects (two males and seven females; mean age at admission, 10.1 years) with WS. The analytical methods included an initial medical questionnaire, lateral cephalography, panoramic radiography, dental casts, and oral examinations. The dental findings showed congenitally missing teeth, microdontia, and peg‐shaped teeth. Regarding cranial morphology, microcephaly occurred at high frequencies, and a short posterior cranial base and thick calvarial bones, including frontal, parietal, and occipital bones, were seen in patients with WS. An analysis of maxillofacial morphology showed the large gonial angles and lingual inclination of the lower incisors in patients with WS. In addition, the chin button was deficient and in three of four growing subjects the maxillofacial growth pattern demonstrated a downward and backward tendency. The results of this study provide important information that will improve our understanding of the characteristics of patients with WS.

Determination of craniofacial and dental characteristics of individuals with Williams‐Beuren syndrome by using 3D facial scans and radiographs

“…Matsuno et al reported comparable findings on the lower incisors and mandible of Japanese individuals with WBS. 19 In contrast to the study of Axelsson et al, we did not find significant differences in the length of the posterior cranial base between male and female subjects. 20 Most WBS subjects in our study presented dental hypoplasia and slender or short roots.…”

“…Cephalometric analysis of our sample showed differences involving the lower lip and lower incisors, which were significantly more proclined in WBS subjects. Matsuno et al reported comparable findings on the lower incisors and mandible of Japanese individuals with WBS 19 . In contrast to the study of Axelsson et al, we did not find significant differences in the length of the posterior cranial base between male and female subjects 20 …”

“…Due to the low prevalence of this syndrome, most studies on craniofacial characteristics in WBS subjects are case reports and few studies include larger sample sizes. Axelsson et al examined 62 subjects with lateral cephalograms, 25 while other studies included 33, 26 19, 27 15 28 and 9 WBS subjects 19 . Our study includes 25 WBS subjects, which makes it difficult to draw definite conclusions.…”

“…Axelsson et al examined 62 subjects with lateral cephalograms, 25 while other studies included 33, 26 19, 27 15 28 and 9 WBS subjects. 19 Our study includes 25 WBS subjects, which makes it difficult to draw definite conclusions. Findings should therefore be considered as hypothesis-generating and ought to be further confirmed.…”

Etiology, Diagnosis, and Management of Childhood Microcephaly: A Single-Center Retrospective Study

“…In terms of cranial morphology, microcephaly was very common. 16 Figure1. Cranial imaging of a microcephaly patient *Microcephaly and trigonocephaly can be seen on cranial X-ray (yellow arrow).…”