Floating-Harbor syndrome (FHS) is an extremely rare genetic disorder connected with a distinctive facial appearance, various skeletal malformations, delayed bone age, and expressive language delays. It is caused by heterozygous mutations in the Snf2-related CREBBP activator protein (SRCAP) gene. The aim of this paper is to describe the case of a 14-year-old male with FHS, referring to a review of the literature, and to collect all reported symptoms. In addition, the orthodontic treatment of the patient is described. For this, the electronic databases PubMed and Scopus were searched using the keyword \"Floating-Harbor syndrome\". Similar to previous cases in the literature, the patient presented with short stature; a triangular face with a large bulbous nose; deep-set eyes and narrow eyelid gaps; a wide mouth with a thin vermilion border of the upper lip; and dorsally rotated, small ears. They also presented some less-described symptoms, such as macrodontia and micrognathia. Moreover, mild mental retardation, microcephaly, and delayed psychomotor development were found. On the basis of an extraoral, intraoral examination, X-rays, and CBCT, he was diagnosed with overbite, canine class I and angle class III, on both sides. To the best of our knowledge, orthodontic treatment of this disease has not been assessed in detail so far, so this is the first case.

BACKGROUND: Minor physical anomalies (MPAs) are congenital morphological abnormalities linked to disruptions of fetal development. MPAs are common in 22q11.2 deletion syndrome (22q11DS) and psychosis spectrum disorders (PS) and likely represent a disruption of early embryologic development that may help identify overlapping mechanisms linked to psychosis in these disorders.
METHODS: Here, 2D digital photographs were collected from 22q11DS (n = 150), PS (n = 55), and typically developing (TD; n = 93) individuals. Photographs were analyzed using two computer-vision techniques: (1) DeepGestalt algorithm (Face2Gene (F2G)) technology to identify the presence of genetically mediated facial disorders, and (2) Emotrics-a semi-automated machine learning technique that localizes and measures facial features.
RESULTS: F2G reliably identified patients with 22q11DS; faces of PS patients were matched to several genetic conditions including FragileX and 22q11DS. PCA-derived factor loadings of all F2G scores indicated unique and overlapping facial patterns that were related to both 22q11DS and PS. Regional facial measurements of the eyes and nose were smaller in 22q11DS as compared to TD, while PS showed intermediate measurements.
CONCLUSIONS: The extent to which craniofacial dysmorphology 22q11DS and PS overlapping and evident before the impairment or distress of sub-psychotic symptoms may allow us to identify at-risk youths more reliably and at an earlier stage of development.

BACKGROUND: This paper aimed to explore the prevalence of temporomandibular disorders (TMDs) signs/symptoms, and to investigate the possible link between signs/symptoms of TMDs and mouth breathing (MB) by evaluating along with other risk factors, in a Turkish subpopulation of children and adolescence.
METHODS: This study was conducted with the archival data of the patients who applied with orthodontic complaints. Data on demographic characteristics, family-related factors, systemic status, occlusion, breathing patterns, oral habits, and bruxism were retrieved from the archival records.
RESULTS: Nine hundred forty-five children and adolescents with a mean age of 14.82 ± 2.06 years were included in the study. Of the participants, 66% were girls, 60.4% were delivered by C-section, 8.4% of the participants had at least one systemic disease, 9.2% of the participants had allergy, and 4.3% of the participants\' parents were divorced, 18.7% have an oral habit, 6.6% have bruxism, 29.8% have malocclusion and 14.1% have MB. Eight-point-five percent of participants have signs/symptoms of TMD. Among them 2.9% have pain, 3.7% have joint sounds, 1.4% have deflection, and 3.9% have deviation. Evaluation of the risk factors revealed a significant relation between the signs/symptoms of TMD and bruxism (OR 8.07 95% CI 4.36-14.92), gender (OR 2.01 95% CI 1.13-3.59), marital status of parents (OR 2.62 95% CI 1.07-6.42), and MB (OR 3.26 95% CI 1.86-5.71).
CONCLUSIONS: According to the study\'s findings, girls and those with bruxism, divorced parents, and MB behavior are more likely to have signs/symptoms of TMD. Age found to have significant effect on the occurrence of the signs/symptoms of TMD alone, but together with other factors the effect of the age is disappeared. Early screening and intervention of MB as well as the signs/symptoms of TMD can help to limit detrimental effects of these conditions on growth, and quality of life of children and adolescents.

BACKGROUND: Frontonasal dysplasia (FND) is a rare congenital anomaly resulting from the underdevelopment of the frontonasal process, and it can be syndromic or nonsyndromic. The typical features of FND include a deformed nose and ocular hypertelorism, which are sometimes associated with cleft lip and/or palate. Only approximately 10 cases of prenatally diagnosed nonsyndromic FND have been reported in the past 30 years.
METHODS: A 33-year-old woman (G2P1) was referred to our center at 20 gestational weeks for bilateral hydrocephaly. We detected typical features of FND, including severe hypertelorism, median nasal bifidity, a minor cleft lip, and multiple limb anomalies using three-dimensional (3D) ultrasound. A hypoplastic corpus callosum, unilateral microtia, and a ventricular septal defect were also detected. Genetic testing, including karyotype analysis, copy number variation (CNV) analysis, trio-whole exome sequencing (trio-WES), and trio-whole-gene sequencing (trio-WGS), was performed; however, we did not find any de novo gene variants in the fetus as compared to the parents. Postmortem examination confirmed the prenatal diagnosis of FND.
CONCLUSIONS: The present case expands the wide phenotypic spectrum of prenatal FND patients. 3D ultrasound is a useful tool for detecting facial and limb deformities.

The primary objective of this cadaver study was to assess the feasibility of a novel custom helical distraction system and a patient-specific antral maxillary distractor. The study involved two fresh cadaver heads and followed a systematic procedure. First, virtual planning was conducted for an asymmetric maxillomandibular advancement. Custom patient-specific hardware was then fabricated to enable sequential mandibular advancement and gradual maxillary distraction. The mandibular lengthening procedures were found to be highly accurate, with only minor deviations from the planned results. In terms of maxillary distraction, the patient-specific antral distractors demonstrated favorable outcomes, with two noteworthy exceptions. Ideal forward maxillary advancement was short by a modest 2-3 mm in both cadavers. Additionally, cadaver 2 exhibited an unplanned pitch malrotation. However, an excellent occlusion was achieved in cadaver 1 and an acceptable anterior occlusion in cadaver 2, albeit with bilateral posterior open bites that could be readily corrected with interdental elastics in a clinical setting. This cadaver model study provides compelling evidence for the feasibility of patient-specific antral helical distractors, highlighting their potential to yield positive outcomes. Importantly, the study results suggest that patient-specific antral distractors may offer superior results compared to the current standard of linear distractors.

UNASSIGNED: To assess the association between self-reported symptoms of pediatric OSA and clinical signs in MB children.
UNASSIGNED: Seventy-three MB children aged 7-14 years answered an interview questionnaire on OSA symptoms in childhood, focusing on chewing, nasal, and sleep disturbances. MB children were checked for changes on the craniofacial, occlusion, TMJ, upper airway, and body posture by a multi-disciplinary team, consisting of medical residents, dental, and psychology postgraduate students. Multiple logistic regression analysis verified the association between clinical signs and self-reported symptoms.
UNASSIGNED: Reported symptoms of chewing disturbance as TMD noise, muscle pain, and morning headache were significantly associated with the presence of lip incompetence and Class II malocclusion. Sleep disturbances as snoring, waking up at night, daytime sleepiness, and sleeping with the mouth open were significantly associated with the presence of hypertrophic tonsils and obstructive Mallampati score.
UNASSIGNED: Symptoms of pediatric OSA were found in mouth-breathing children, which should be carefully investigated in order to prevent OSA in the future.

Orthognathic surgery primarily corrects skeletal anomalies and malocclusion to enhance facial aesthetics, aiming for an improved facial appearance. However, this traditional skeletal-driven approach may result in undesirable residual asymmetry. To address this issue, a soft tissue-driven planning methodology has been proposed. This technique estimates bone movements based on the envisioned optimal facial appearance, thereby enhancing surgical accuracy and effectiveness. This study investigates the initial implementation phase of the soft tissue-driven approach, simulating the patient\'s ideal appearance by realigning distorted facial landmarks to an ideal state. The algorithm employs symmetrization and weighted optimization strategies, aligning projected optimal landmarks with standard cephalometric values for both facial symmetry and form, which are essential in orthognathic surgery for facial aesthetics. It also incorporates regularization to preserve the patient\'s facial characteristics. Validation through retrospective analysis of preoperative patients and normal subjects demonstrates this method\'s efficacy in achieving facial symmetry, particularly in the lower face, and promoting a natural, harmonious contour. Adhering to soft tissue-driven principles, this novel approach shows promise in surpassing traditional methods, potentially leading to enhanced facial outcomes and patient satisfaction in orthognathic surgery.

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OBJECTIVE: To illustrate the value of using zebrafish to understand the role of the Fgf signaling pathway during craniofacial skeletal development under normal and pathological conditions.
RESULTS: Recent data obtained from studies on zebrafish have demonstrated the genetic redundancy of Fgf signaling pathway and have identified new molecular partners of this signaling during the early stages of craniofacial skeletal development. Studies on zebrafish models demonstrate the involvement of the Fgf signaling pathway at every stage of craniofacial development. They particularly emphasize the central role of Fgf signaling pathway during the early stages of the development, which significantly impacts the formation of the various structures making up the craniofacial skeleton. This partly explains the craniofacial abnormalities observed in disorders associated with FGF signaling. Future research efforts should focus on investigating zebrafish Fgf signaling during more advanced stages, notably by establishing zebrafish models expressing mutations responsible for diseases such as craniosynostoses.

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