Identification of a de novo PUF60 variant associated with craniofacial microsomia.

Craniofacial microsomia (CFM), also known as the oculo-auriculo-vertebral spectrum, is a congenital disorder characterized by hypoplasia of the mandible and external ear due to tissue malformations originating from the first and second branchial arches. However, distinguishing it from other syndromes of branchial arch abnormalities is difficult, and causal variants remain unidentified in many cases. In this report, we performed an exome sequencing analysis of a Brazilian family with CFM. The proband was a 12-month-old boy with clinical findings consistent with the diagnostic criteria for CFM, including unilateral mandibular hypoplasia, microtia, and external auditory canal abnormalities. A heterozygous de novo nonsense variant (c.713C>G, p.S238*) in PUF60 was identified, which was predicted to be pathogenic in silico. PUF60 has been reported as a causal gene in Verheij syndrome, but not in CFM. Although the boy showed craniofacial abnormalities and developmental delay that overlapped with Verheij syndrome, the facial asymmetry with unilateral hypoplasia of the mandible observed in this case did not match the previously reported phenotypes of PUF60 variants. Our findings expand the phenotypic range of PUF60 variants that cover CFM and Verheij syndrome.

Impact of orthognathic surgery on the prevalence of dehiscence in Class II and Class III surgical-orthodontic patients.

OBJECTIVES: The objectives were to evaluate and compare the presence of bone dehiscence before and after orthognathic surgery. MATERIALS AND METHODS: In this retrospective study, 90 cone-beam computed tomography (CBCT) scans from 45 patients were evaluated. Class II (n = 23) and Class III (n = 22) orthodontic patients who were being prepared for orthognathic surgery were measured. CBCT scans were obtained about 30 days prior to (T0) and 6 months after (T1) double jaw orthognathic surgery. The distance between the cemento-enamel junction (CEJ) and the alveolar bone crest was assessed at the buccal and lingual surfaces of all teeth, on both sides and arches, except for the second premolars and the second and third molars. A total of 1332 sites were measured for Class II (644) and Class III (688) patients. The software used was OsiriX (version 3.3 32-bit). Data were compared with Wilcoxon and McNemar tests at the 5% level. RESULTS: Bone dehiscence before surgery was present in 26% and 15% of the Class II and III groups, respectively. The presence of dehiscence increased to 31% in the Class II and 20% in the Class III patients after surgery (P < .05). CONCLUSIONS: The prevalence of dehiscence increased slightly in Class II and Class III surgical-orthodontic patients after orthognathic surgery. Temporary vascular supply reduction and oral hygiene difficulties may explain these results; however, more studies are needed.

New application of dynamic magnetic resonance imaging for the assessment of deglutitive tongue movement.

BACKGROUND: Deglutitive motion of the tongue may function to maintain tooth position. However, the causation between abnormal patterns of orofacial muscle function and dental malocclusion remains unclear. To clarify the pathogenic mechanism of malocclusion, it is important to determine the relative positional relationship between the tongue tip and incisor edge or the dorsal tongue and palate during deglutition. Here, we assessed the utility of 3-T segmented cine-magnetic resonance (MR) imaging, combined with static MR images for hard tissue visualization, in assessing the relationship between the tongue and the surrounding tissues during deglutitive tongue movement. METHODS: Cine-MR images were acquired from three healthy female volunteers during deglutition who had no history of swallowing disorder or other chronic illness, normal alignment and occlusion, and a skeletal class I relationship. Three cine-MR images were taken during deglutition in accordance with an auditory cue for each volunteer. During static imaging, custom-made, contrast-medium-filled clear retainers were positioned in the mouth to allow visualization of the upper and lower incisors and hard palate boundaries. Static images were superimposed onto images of the three stages in deglutitive tongue movement, which were selected from a series of cine-MR images. These superimpositions were assessed five times by tracing cephalometric parameters to examine the reproducibility of the method. RESULTS: Traces varied little across repeated measurements, and all subjects had a similar pattern of dorsal tongue movement. Tongue-to-palate contact increased slightly during the first to second stage of swallowing and abruptly increased during the second to third stage, while the tongue tip position remained constant. CONCLUSIONS: Segmented cine-MR imaging combined with static MR images is useful for assessing soft tissue motion during deglutition. This method is particularly useful in dentistry to evaluate the relationship between tongue function and maxillofacial morphology in terms of orthodontic treatment and orofacial myofunctional therapy, and for improving tongue movement during speech therapy.

Differences in Velopharyngeal Structure during Speech among Asians Revealed by 3-Tesla Magnetic Resonance Imaging Movie Mode.

OBJECTIVE: Different bony structures can affect the function of the velopharyngeal muscles. Asian populations differ morphologically, including the morphologies of their bony structures. The purpose of this study was to compare the velopharyngeal structures during speech in two Asian populations: Japanese and Thai. METHODS: Ten healthy Japanese and Thai females (five each) were evaluated with a 3-Tesla (3 T) magnetic resonance imaging (MRI) scanner while they produced vowel-consonant-vowel syllable (/asa/). A gradient-echo sequence, fast low-angle shot with segmented cine and parallel imaging technique was used to obtain sagittal images of the velopharyngeal structures. RESULTS: MRI was carried out in real time during speech production, allowing investigations of the time-to-time changes in the velopharyngeal structures. Thai subjects had a significantly longer hard palate and produced shorter consonant than Japanese subjects. The velum of the Thai participants showed significant thickening during consonant production and their retroglossal space was significantly wider at rest, whereas the dimensional change during task performance was similar in the two populations. CONCLUSIONS: The 3 T MRI movie method can be used to investigate velopharyngeal function and diagnose velopharyngeal insufficiency. The racial differences may include differences in skeletal patterns and soft-tissue morphology that result in functional differences for the affected structures.

Use of an advanced 3-T MRI movie to investigate articulation.

OBJECTIVE: To develop a magnetic resonance imaging (MRI) movie to reveal the dynamic movement of articulators and teeth. STUDY DESIGN: Five healthy females with normal occlusion participated in this study. Various concentrations of MRI contrast media (ferric ammonium citrate [FAC]) were tested for visualization of teeth, according to facial markers and with the use of a gel. Custom-made circuitry was connected to synchronize pronunciation of fricative sounds (/asa/) with scans. Three gradient echo sequences (True fast imaging with steady state precession [true FISP], FISP, and fast low angle shot [FLASH]) with a segmented cine were tested with the use of repetition times (TRs) of 9 ms and 31.5 ms. The MRI movie images were superimposed over the boundaries of teeth. The images produced during pronunciation, using the two different TRs (9 ms and 31 ms), were compared to assess the position of the lips and the tongue. RESULTS: Images obtained using the FLASH sequence, with a TR of 9 ms or 31.5 ms, can be used for diagnostic purposes. A TR of 9 ms, with 161 continuous images acquired, produced the highest-quality images of teeth, with few artifacts present. Pronunciation of the consonant "s" was clearly discernable. CONCLUSIONS: Our 3-T MRI movie system, with a temporal resolution less than 9 ms, can provide detailed information pertaining to variations in speech or oropharyngeal function.

Differential articulatory movements during Japanese /s/ and /t/ as revealed by MR image sequences with tooth visualization.

OBJECTIVE: To evaluate the spatio-temporal relationships between articulators in the anterior oral cavity, during the production of Japanese fricative and plosive articulation using our proposed method for tooth visualization in MR image sequences. DESIGN: Ten healthy adults without malocclusion participated in the study. Customized maxillary and mandibular plates with space around the central incisors that was to be filled with MR-compatible contrast medium were made. During image-acquisition by a cine magnetic resonance imaging (MRI) technique, the subjects repeated vowel-consonant-vowel syllables (/asa/ and /ata/) without wearing the plates. The subjects then wore the plates for tooth imaging. All data were acquired in the midsagittal plane. Tooth boundaries were superimposed using landmarks. Several parameters and spatio-temporal changes in the centre of gravity (CoG) of the tongue were measured. RESULTS: During /t/, the duration and amount of tongue-to-palate/incisor contact were significantly greater and the radius of the inscribed circle between the tongue-maxillary incisor-mandibular incisor was significantly shorter than those during /s/. /t/ also had a more anteriorly located CoG of the tongue than /s/ during maximum constriction. The spatio-temporal changes in the CoG of the tongue were significantly different between /asa/ and /ata/. CONCLUSIONS: We conclude that increased tongue-to-palate/incisor contact and greater anterior closure are necessary for the production of Japanese /t/ compared to /s/. With the use of this new method for tooth visualization in MR image sequences, it should be possible to evaluate the interaction of teeth and other articulators during speech.

Motor coordination of articulators depends on the place of articulation.

Although the sounds/p/and/k/are both voiceless plosives, they have different places of articulation: bilabial and velar, respectively. The purpose of this study was to determine the relationship among articulators in plosives with reference to their place of articulation. Ten healthy subjects repeated bilabial and velar plosives in synchronization with magnetic resonance scanning. Each run was measured using a gradient echo sequence. Several linear and angular variables were defined to delineate the individual movements of articulators and to determine the temporal relationships among articulators. These variables showed distinctive changes depending on the place of articulation. In addition, movement of the velum was significantly correlated with that of the lips and the anterior part of the tongue in the bilabial plosive and with the posterior part of the tongue in the velar plosive. We conclude that unitary motor coordination of articulators depends on the place of articulation.

Combined fMRI and MRI movie in the evaluation of articulation in subjects with and without cleft lip and palate.

OBJECTIVE: This study was undertaken to explore the application of functional magnetic resonance imaging (fMRI) and MRI movies in the evaluation of articulatory function in subjects with and without cleft lip and palate (CLP). DESIGN: The authors examined brain activation and the dynamic movement of articulators during bilabial and velar plosives using fMRI and MRI movies. SUBJECTS: Two subjects, one with unilateral cleft lip and palate (UCLP) and one with bilateral cleft lip and palate (BCLP), and 12 non-CLP volunteers. RESULTS: Activation foci were found in the precentral gyrus, thalamus, and cerebellum in non-CLP volunteers. In comparison, similar regions were activated in the UCLP subject during both plosives, whereas the regions activated in the BCLP subject were different, particularly during the velar plosive. The dynamic movement of articulators in the UCLP subject was comparable to that in a non-CLP volunteer but different from that in the BCLP subject. CONCLUSIONS: The results suggest that these two MRI modalities may be a promising evaluation methodology for articulatory function in CLP from central and peripheral perspectives.