Muenke syndrome is an autosomal dominant genetic disorder that is typically characterized by unilateral or bilateral coronal synostosis, macrocephaly, midface hypoplasia, and developmental delays. This article reports a case of Muenke syndrome with a soft cleft palate. A heterozygous missense mutation c.749C>G (p.P250A) was identified in the FGFR3 gene through genetic testing. The patient exhibited typical features including coronal synostosis, bilateral hearing loss, right accessory auricle, and developmental delays and underwent surgery to repair the soft cleft palate. Cases of Muenke syndrome with cleft palate in the literature are relatively rare, and common associated symptoms include coronal suture craniosynostosis and hearing impairment. This article reports a differential diagnosis with other craniosynostosis syndromes and provides a reference for clinical diagnosis and treatment.
Humans ; Cleft Palate/surgery* ; Craniosynostoses/diagnosis* ; Mutation, Missense ; Palate, Soft/abnormalities* ; Receptor, Fibroblast Growth Factor, Type 3/genetics*

Central positional nystagmus （CPN） is a form of positional nystagmus caused by lesions of the central vestibular system. Since the clinical manifestations and nystagmus features of CPN are highly similar with those of benign paroxysmal positional vertigo， the diagnosis of CPN is highly challenging. The etiology of CPN is complex， involving both structural lesions such as stroke and tumors and non-structural disorders such as vestibular migraine. The primary lesion sites of CPN included the cerebellar nodulus， the uvula， and the tonsil. CPN can be classified into paroxysmal （transient） CPN and persistent CPN. The clinical features of paroxysmal CPN （including latency， duration， direction， intensity， and their correlation with the type and speed of positional maneuvers） suggest that it originates from the semicircular canal， and its pathogenesis involves post-rotatory rebound nystagmus caused by the disinhibition of irregular afferent signals transmitted to the vestibular nuclei due to central damage （often involving the cerebellar nodulus and the uvula）. Persistent CPN may be caused by damage to the velocity storage pathway， resulting in an erroneous assessment of gravity direction and inertia. This article summarizes the latest advances in the etiology， lesion sites， pathogenesis， clinical features， differential diagnosis， and treatment of CPN in China and globally， in order to help clinicians better understand and identify CPN and thus achieve timely diagnosis and effective treatment.
Uvula

Objective:To compare the changes of morphology of pharynx in patients with obstructive sleep apnea hypopnea syndrome （OSAHS） and healthy individuals during oral or nasal breathing, and explore the relevant influencing factors. Methods:Twenty-nine adult patients with OSAHS and 20 non-snoring controls underwent MRI to obtain upper airway structural measurements while the subjects were awake and during mouth breathing with a nasal clip.The following were analyzed. ①The changes of upper airway structure of oral and nasal respiration in non-snoring control/OSAHS patients were observed; ②The differences and influencing factors of upper airway structure changes between OSAHS patients and controls were compared during breathing. Results:The control group consisted of 15 males and 5 females, with an apnea-hypopnea index （AHI）<5 events/h, while the OSAHS group comprised 26 males and 3 females with an AHI of 40.4±23.1 events/h and the mean lowest arterial oxygen saturation （LSaO2） was 79.5% ±10.0%. In the both groups, the vertical distance between the mandible and the posterior pharyngeal wall decreased （P<0.05）; The long axis of tongue body decreased （P<0.05）, and the contact area between tongue and palate decreased. There was no significant change in the total volume of the retropalatine（RP） and retroglossal（RG） airway in the control group （P>0.05）. However, the minimum cross-sectional area and volume of the RP airway in OSAHS decreased （P<0.001）. The lateral diameters of uvula plane in OSAHS decreased during mouth breathing, which was contrary to the trend in the control group （P=0.017）. The AHI of patients was positively correlated with the reduction of the volume of the RP airway during oral breathing （P=0.001）; The reduction of the distance between the mandible and the posterior pharyngeal wall was positively correlated with the length of the airway （P<0.001）. Conclusion:Mouth breathing leads to the shortening of the long axis of the tongue, the reduction of the contact area between the soft palate and the tongue, vertical distance between the mandible and the posterior pharyngeal wall, and the cross-sectional area of the epiglottis plane. These changes vary between OSAHS patients and controls. During mouth breathing, the diameters, areas and volumes of the RP area decreased, and were more significant in severe cases.
Male ; Adult ; Female ; Humans ; Mouth Breathing ; Sleep Apnea, Obstructive/surgery* ; Pharynx/surgery* ; Palate, Soft ; Uvula/surgery* ; Syndrome

Cleft Palate ; Humans ; Palate, Soft ; Pharyngeal Muscles ; Pharynx ; Velopharyngeal Insufficiency

Objective: To explore the efficacy of relocation and expansion pharyngoplasty by suspension sutures in the treatment of obstructive sleep apnea hypopnea syndrome (OSAHS). Methods: Seventy-three patients(including 60 males and 13 females) with OSAHS admitted to the department of otorhinolaryngology of our hospital in recent two years were retrospectively analyzed. All the patients had velopharyngeal obstructionevaluated by electronic endoscopic Müller test and were divided into control group (34 cases) and observation group (39 cases). The patients in the control group were performed modified uvulopalatopharyngoplasty, while those in the observation group were performed relocation and expansion pharyngoplasty by suspension sutures.The scores of ESS, AHI and LSaO₂ before and after treatment were collected and compared. Results: The total effective rate of the observation group was 94.87%, which was significantly higher than 79.41% of the control group. The AHI was lower and LSaO₂ value was higher (χ²=-1. 896,-1. 968,P<0.05)in the observation group. The sleeping symptoms and quality of life of the two groups were significantly improved. The ESS score of the observation group was decreased more significantly than that of the control group after treatment, and the difference was statistically significant (χ²=-1.451,P<0.05). The incidence of foreign body sensation in pharynx of the observation group (89.74%) was higher than that of the control group (55.88%), and the postoperative bleeding and postoperative recurrence rate (0.00%, 2.56%) was lower than that of the control group (8.82%, 14.70%)with statistical significance (χ²=4.738,4.249,4.119,P<0.05).The incidence of transient nasopharyngeal reflux in both groups was low and statistically insignificant (χ²=0.629,P>0.05). Conclusions: Preoperative strict screening of indications plays an important role in the selection of palatopharyngeal surgery methods and curative effect. Relocation and expansion pharyngoplasty by suspension sutures can improve the clinical efficacy of OSAHS with better safety and less recurrence.
Female ; Humans ; Male ; Palate, Soft/surgery* ; Pharynx/surgery* ; Quality of Life ; Retrospective Studies ; Sleep Apnea, Obstructive/surgery* ; Sutures

OBJECTIVE: To analyze velopharyngeal closure patterns and speech characteristics of patients with congenital velopharyngeal insufficiency. METHODS: Patients visiting the Department of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University between 2009 and 2017 were reviewed. Outcomes of subjective speech evaluation, including resonance, consonant articulation, and correction rate, were analyzed. Furthermore, the mobility of soft palate and pharyngeal walls under nasopharyngeal fiberscope were analyzed retrospectively. RESULTS: A total of 47 cases were retrieved and subjected to nasopharyngeal fiberscopic examination. Among them, 29 (61.7%) demonstrated a circular closure pattern, 16 (34.0%) showed a coronal pattern, and 2 (4.3%) had a sagittal pattern. Furthermore, 25 (53.2%) presented medium soft-palate mobility, 22 (46.8%) had weak lateral pharyngeal wall mobility, and 41 (87.2%) had no posterior pharyngeal wall mobility. Among all of the patients, 23 (48.9%) presented medium hypernasality, accounting for the highest proportion. Consonant misarticulation occurred in 89.4% of the cases. The articulation manners with the highest correction rate were in the following order: nasal, lateral, fricatives, stops, and affricates. The articulation places with the highest correction rate were in the following order: bilabial, alveolar, velar, and linguadental. CONCLUSIONS Circular closure was the most prevalent velopharyngeal closure pattern among patients with congenital velopharyngeal insufficiency, and consonant omission was the most common articulation abnormality.
China ; Cleft Palate/surgery* ; Humans ; Palate, Soft ; Pharynx ; Retrospective Studies ; Speech ; Treatment Outcome ; Velopharyngeal Insufficiency

Recent studies have reported on the reconstruction of oral mucosal defects using acellular dermal matrix (ADM). This case report describes the reconstruction of a soft-palate mucosal defect using ADM. A 43-year-old man developed a 2.5 cm × 3 cm soft-palate mucosal defect after the removal of a lump on the soft palate andreconstructed the defect using ADM without further complications. Reconstruction of the soft palate with ADM could be more convenient than traditional methods including primary closure, skin graft, and local or free flap without complications.
Acellular Dermis ; Adenoma, Pleomorphic ; Adult ; Free Tissue Flaps ; Humans ; Palate, Soft ; Skin ; Transplants

OBJECTIVE: To explore the prognostic factors affecting the primary surgical management of aged patients with cleft palate. METHODS: This study reviewed aged patients with cleft palate who received Furlow palatoplasty (surgical age≥5 years) at the cleft center at West China Hospital of Stomatology from 2009 to 2014. The study retrieved intraoperative mea-surements, including velar length, pharyngeal depth, cleft width, maxillary width, cleft palate index, and palatopharyngeal ratio. Speech evaluation results at follow-up at least a year after surgery were also obtained. Logistic regression and retrospec-tive analyses were performed to identify correlative prognostic factors. RESULTS: One hundred and thirty-one patients were included (70 males and 61 females). Dichotomy logistic regression analysis revealed that pharyngeal depth was the only mea-surement considerably associated with postoperative velopharyngeal function. Pharyngeal depth deeper than 16 mm indicated high risk of postoperative velopharyngeal insufficiency. CONCLUSIONS Pharyn-geal depth is a significant prognostic factor for the primary surgical management of aged patients with cleft palate. Pharyn-goplasty might be considered when planning the primary management of aged patients.
Child, Preschool ; China ; Cleft Palate ; Female ; Humans ; Male ; Palate, Soft ; Pharynx ; Retrospective Studies ; Treatment Outcome ; Velopharyngeal Insufficiency

PURPOSE: The purpose of this study was to investigate variations in velar shape according to age, sex, and race using magnetic resonance imaging (MRI). MATERIALS AND METHODS: The study sample consisted of 170 participants (85 children, 85 adults) between 4 and 34 years of age. Velar morphology was visually classified using midsagittal MRI scans for each participant by 2 independent raters. Inter- and intra-rater reliability was assessed. Statistical analyses were performed to identify correlations of velar shape with sex, age, and race. RESULTS: The most frequent velar shape was “buttf” for both adults (41%) and children (58%) in this study. The least common shapes for adults were “leaf” and “S.f” The children did not exhibit any “leaff” or “straightf” velar shapes. A statistically significant difference was noted for age with respect to velar shape (P=0.014). Sex and race were found to have no significant impact on velar shape in this study. CONCLUSION: When using MRI to evaluate velar morphology, the “buttf” shape was most common in both children and adults. Velar shape varied significantly with age, while race and sex did not have a significant impact.
Adult ; Child ; Continental Population Groups ; Humans ; Magnetic Resonance Imaging ; Palate, Soft ; Pharynx

This report is a case of 76-year old male patient who had difficulty in swallowing, pronunciation and suffered regurgitation of food. The patient lacks uvula and both tonsils, had short palatoglossal arch and soft palate, as well as defective left palatopharyngeal arch. The height and width of the soft palate defect were measured by reconstructing the Computed Tomography (CT) image in three dimensions. Phonation and soft palate obstructing ability were examined by nasometry and nasal endoscopy. Evaluations on phonetics and swallowing were done and improvements were shown. The patient was satisfied with the results of treatment.
Deglutition ; Endoscopy ; Humans ; Jaw, Edentulous ; Male ; Palate, Soft ; Palatine Tonsil ; Phonation ; Phonetics ; Rehabilitation ; Uvula