BACKGROUND: This case report presents a rare combination of congenital anomalies in an otherwise healthy male infant born at 36 weeks. The infant was diagnosed with congenital maxillomandibular synechia, ectrodactyly, and ankyloglossia superior syndrome (ASS).
METHODS: Inability to open the mouth completely, feeding challenges, and a cleft palate. The infant was stabilized through successful positive pressure ventilation via a face mask at birth and enteral feeding was initiated via a feeding gastrostomy.
RESULTS: Diagnostic tests revealed a midline palatal cleft, hypoplastic jaws, persistent metopic suture, and a bony fusion at the midline.
METHODS: Sectioning of the bony spur along the midline and achieving a mouth opening of 2 cm post-manipulation. The patient is under follow-up, with future treatment plans including cleft palate correction at 12 months and potential frontomandibular and lower jaw advancement depending on growth trajectories.
UNASSIGNED: This case underscores the complexity of managing multiple congenital anomalies and the need for individualized treatment plans.

UNASSIGNED: The purpose of this study was to clarify the panoramic image differences of cleft alveolus patients with or without a cleft palate, with emphases on the visibility of the line formed by the junction between the nasal septum and nasal floor (the upper line) and the appearances of the maxillary lateral incisor.
UNASSIGNED: Panoramic radiographs of 238 patients with cleft alveolus were analyzed for the visibility of the upper line, including clear, obscure or invisible, and the appearances of the maxillary lateral incisor, regarding congenital absence, incomplete growth, delayed eruption and medial inclination. Differences in the distribution ratio of these visibility and appearances were verified between the patients with and without a cleft palate using the chi-square test.
UNASSIGNED: There was a significant difference in the visibility distribution of the upper line between the patients with and without a cleft palate (p<0.05). In most of the patients with a cleft palate, the upper line was not observed. In the unilateral cleft alveolus patients, the medial inclination of the maxillary lateral incisor was more frequently observed in patients with a cleft palate than in patients without a cleft palate.
UNASSIGNED: Two differences were identified in panoramic appearances. The first was the disappearance (invisible appearance) of the upper line in patients with a cleft palate, and the second was a change in the medial inclination on the affected side maxillary lateral incisor in unilateral cleft alveolus patients with a cleft palate.

OBJECTIVE: Unilateral temporomandibular joint ankylosis with jaw deformity (UTMJAJD) may require simultaneous total joint prosthesis (TJP) reconstruction, sagittal split ramus (SSRO), and Le Fort I osteotomies. The purpose of this study was to evaluate outcomes in patients treated with these procedures.
METHODS: Patients diagnosed UTMJAJD between 2016 and 2018 were selected for the study. Mandible-first procedure was performed after ankylosis release with TJP on the ankylosed side and SSRO on the contralateral side. Le Fort I osteotomy with and without genioplasty was lastly performed. Maximal incisor opening (MIO), facial symmetry, and jaw and condyle stability were compared before, after operation, and during follow-ups.
RESULTS: Seven patients were included in the study. Their average chin deviation was 9.5 ± 4.2 mm, and maxillary cant was 5.1 ± 3.0°. After operation, jaw deformity significantly improved, with chin deviation corrected 7.6 ± 4.1 mm (p = 0.015) and advanced 5.9 ± 2.5 mm (p = 0.006). After an average follow-up of 26.6 ± 17.1 months, MIO significantly increased from 11.4 ± 9.3 to 35.7 ± 2.6 mm (p = 0.000). The occlusion was stable with no significant positional or rotational changes of the jaw (p > 0.05). There was no obvious condylar resorption during follow-ups.
CONCLUSIONS: Simultaneous TJP reconstruction, SSRO, and Le Fort I osteotomy are reliable and effective methods for the treatment of UTMJAJD.

This study evaluated the feasibility of simultaneous temporomandibular joint (TMJ) arthroscopy and orthognathic surgery as a new treatment strategy for anterior disc displacement without reduction (ADDwoR) patients with severe jaw deformities. Twelve ADDwoR patients with facial deformities who underwent arthroscopy and orthognathic surgery between September 2015 and December 2019 were retrospectively evaluated. Pre- and postoperative maximum incisal opening (MIO) and joint pain were recorded. Computed tomography (CT) and three-dimensional cephalometric analysis were performed at 3 (T1) and ≥6 (T2) months postoperatively. Magnetic resonance imaging (MRI) of the TMJ was performed before, ≤7 days after and ≥6 months after surgery. The lateral profile radiological findings, the symmetry of the maxilla and mandible, and the MRI measurements were compared. Anterior disc displacement did not recur, and the maximum incisal opening (MIO) increased from 27.4 mm to 32.7 mm after surgery (p < 0.05). No significant differences were found in the lateral profile, symmetry indices or condylar height via MRI between T1 and T2. Joint morphology and the position of both the maxilla and mandible remained stable during postoperative follow-up, while joint symptoms were markedly relieved and facial appearance was noticeably improved. Combined arthroscopy and orthognathic surgery is effective and recommended for ADDwoR patients with jaw deformities.

Crocodile tear syndrome (CTS) is a late complication of facial nerve palsy characterized by unilateral lacrimation in response to gustatory stimulation. We present 2 cases of patients diagnosed with CTS after recovering from unilateral idiopathic facial nerve palsy. Both patients underwent transconjunctival lacrimal gland incobotulinumtoxinA injection, with doses of 5-16 units. The patients were seen in clinic for post-treatment follow-up at 2 weeks, 3 months, and 6 months. Outcomes were measured by treatment efficacy and adverse drug effects. Following treatment, both patients reported resolution of gustatory lacrimation. The patient treated with 16 U experienced transient ptosis and diplopia following injection, whereas the patient treated with 5-7.5 U experienced no adverse effects.

Jaw deformity diagnosis requires objective tests. Current methods, like cephalometry, have limitations. However, recent studies have shown that machine learning can diagnose jaw deformities in two dimensions. Therefore, we hypothesized that a multilayer perceptron (MLP) could accurately diagnose jaw deformities in three dimensions (3D).
Examine the hypothesis by focusing on anomalous mandibular position. We aimed to: (1) create a machine learning model to diagnose mandibular retrognathism and prognathism; and (2) compare its performance with traditional cephalometric methods.
An in-silico experiment on deidentified retrospective data. The study was conducted at the Houston Methodist Research Institute and Rensselaer Polytechnic Institute. Included were patient records with jaw deformities and preoperative 3D facial models. Patients with significant jaw asymmetry were excluded.
The tests used to diagnose mandibular anteroposterior position are: (1) SNB angle; (2) facial angle; (3) mandibular unit length (MdUL); and (4) MLP model.
The resultant diagnoses: normal, prognathic, or retrognathic.
None.
A senior surgeon labeled the patients\' mandibles as prognathic, normal, or retrognathic, creating a gold standard. Scientists at Rensselaer Polytechnic Institute developed an MLP model to diagnose mandibular prognathism and retrognathism using the 3D coordinates of 50 landmarks. The performance of the MLP model was compared with three traditional cephalometric measurements: (1) SNB, (2) facial angle, and (3) MdUL. The primary metric used to assess the performance was diagnostic accuracy. McNemar\'s exact test tested the difference between traditional cephalometric measurement and MLP. Cohen\'s Kappa measured inter-rater agreement between each method and the gold standard.
The sample included 101 patients. The diagnostic accuracy of SNB, facial angle, MdUL, and MLP were 74.3, 74.3, 75.3, and 85.2%, respectively. McNemar\'s test shows that our MLP performs significantly better than the SNB (P = .027), facial angle (P = .019), and MdUL (P = .031). The agreement between the traditional cephalometric measurements and the surgeon\'s diagnosis was fair. In contrast, the agreement between the MLP and the surgeon was moderate.
The performance of the MLP is significantly better than that of the traditional cephalometric measurements.

暂无摘要。

EDSS1, a syndrome characterized by ectodermal dysplasia-syndactyly, is inherited in an autosomal recessive manner due to mutations in the NECTIN4/PVRL4 gene. Clinical manifestations of the syndrome include defective nail plate, sparse to absent scalp and body hair, spaced teeth with enamel hypoplasia, and bilateral cutaneous syndactyly in the fingers and toes. Here, we report a consanguineous family of Kashmiri origin presenting features of EDSS1. Using whole exome sequencing, we found a recurrent nonsense mutation (NM_030916: c.181C > T, p.(Gln61 ∗)) in the NECTIN4 gene. The variant segregated perfectly with the disorder within the family. The candidate variant was absent in 50 in-house exomes pertaining to other disorders from the same population. In addition to the previously reported clinical phenotype, an upper lip cleft was found in one of the affected members as a novel phenotype that is not reported by previous studies in EDSS1 patients. Therefore, the study presented here, which was conducted on the Kashmiri population, is the first to document a NECTIN4 mutation associated with the upper lip cleft as a novel phenotype. This finding broadens the molecular and phenotypic spectrum of EDSS1.

OBJECTIVE: To compare the outcome of silicone sling frontalis suspension (FS) surgery in children with simple congenital ptosis and children with complex ptosis.
METHODS: A retrospective cohort study.
METHODS: All pediatric patients who underwent silicone sling FS surgery between 2009 and 2020 at a single centre.
METHODS: Patients were divided based on etiology into simple congenital ptosis and complex congenital ptosis. Pre- and postoperative margin-to-reflex distance (MRD1) measurements were determined from clinical photographs. Main outcome measures were assessed as differences in improvement in eyelid height and reoperation rate between the groups.
RESULTS: Two-hundred and eight children were included: 139 simple and 69 complex cases, with 83 females (40%). Mean (±SD) age at intervention was 1.9 ± 2.9 years. Complex cases included blepharophimosis epicanthus inversus syndrome (n = 35), Marcus Gunn jaw-winking syndrome (n = 12), oculomotor palsy (n = 8), congenital fibrosis of extraocular muscles (n = 3), chronic progressive external ophthalmoplegia (n = 3), and others. Mean MRD1 improved by an average of 1.6 mm in both groups. Repeat ptosis correction was performed in 50 of 171 patients (29%) without a history of failed ptosis procedures, and this rate was similar between simple and complex cases. Children under 3 years of age had higher rates of repeat ptosis repair than older children (n = 59 of 175 [34%] vs n = 5 of 33 [15%]; p = 0.03, χ2 test).
CONCLUSIONS: Silicone sling FS has a favourable outcome in 70% of pediatric patients. Preoperative and final MRD1 and reoperation rates were similar between both groups, suggesting that despite the higher complexity in atypical cases, the outcome is similar.

Hemifacial microsomia (HFM) patients may benefit from extended temporomandibular joint replacements (eTMJR) to improve function and quality of life. A cross-sectional survey was sent to surgeons who place alloplastic temporomandibular joints regarding their experience with and complications encountered when placing eTMJR in patients with HFM. Fifty-nine responded to the survey. Thirty-six (61.0%) reported treating patients with HFM and 30 (50.8%) of those reported placing an alloplastic temporomandibular joint (TMJ) prosthesis for patients with HFM. Twenty-three of the 30 surgeons (76.7%) placing alloplastic TMJ prostheses reported using an eTMJR in patients with HFM. The average maximum inter-incisal opening (MIO) after an eTMJR in HFM patients was repor ted as> 25 mm by 82.6% of the participants, and between 16 mm and 25 mm by 17.4%. No participants reported MIO < 15 mm. To avoid condylar sag and open bite changes postoperatively, over 70% reported using some form of modification to stabilize the occlusion. Respondents reported good functional outcomes for eTMJR in patients with HFM with relatively few complications. Therefore, eTMJR could be considered a viable option in the management of this patient population.