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1.
J Oral Biol Craniofac Res ; 14(5): 540-546, 2024.
Article in English | MEDLINE | ID: mdl-39092136

ABSTRACT

Spheroids are spherical aggregates of cells. Normally, most of adherent cells cannot survive in suspension; however, if they adhere to each other and grow to a certain size, they can survive without attaching to the dish surface. Studies have shown that spheroid formation induces dedifferentiation and improves plasticity, proliferative capability, and differentiation capability. In particular, spontaneous spheroids represent a selective and efficient cultivation technique for somatic stem cells. Organoids are considered mini-organs composed of multiple types of cells with extracellular matrices that are maintained in three-dimensional culture. Although their culture environment is similar to that of spheroids, organoids consist of differentiated cells with fundamental tissue/organ structures similar to those of native organs. Organoids have been used for drug development, disease models, and basic biological studies. Spheroid culture has been reported for various cell types in the oral and craniofacial regions, including salivary gland epithelial cells, periodontal ligament cells, dental pulp stem cells, and oral mucosa-derived cells. For broader clinical application, it is crucial to identify treatment targets that can leverage the superior stemness of spheroids. Organoids have been developed from various organs, including taste buds, oral mucosa, teeth, and salivary glands, for basic biological studies and also with the goal to replace damaged or defective organs. The development of novel immune-tolerant cell sources is the key to the widespread clinical application of organoids in regenerative medicine. Further efforts to understand the underlying basic mechanisms of spheroids and organoids will lead to the development of safe and efficient next-generation regenerative therapies.

2.
J Neurosurg Pediatr ; : 1-9, 2024 Aug 02.
Article in English | MEDLINE | ID: mdl-39094185

ABSTRACT

OBJECTIVE: Fronto-facial monobloc advancement with internal distraction (FFMBA) is a key procedure in the management of syndromic craniosynostoses. FFMBA involves circumferential dissection and linear enlargement of the orbit, potentially leading to mechanical stress on the optic nerve (ON). Several reports of transient vision loss during the distraction process led us to investigate ON shape modifications during facial advancement, with the aim to potentially refine current clinical guidelines on postoperative management and the distraction schedule. METHODS: Twenty-six patients with Crouzon syndrome were included in this study. ONs were segmented on pre- and postoperative CT scans. Distraction amplitudes, linear and curved lengths, and cross-section diameters of the ON were assessed along the main axis of the nerve. A two-level hierarchical multivariate linear model was used to screen for factors associated with ON morphology. RESULTS: The mean age at FFMBA was 4.4 ± 3.8 years. Two patients presented with transient impaired vision during distraction. The final mean fronto-orbital and temporo-zygomatic distraction amplitudes were 18 ± 4 mm and 18 ± 6 mm, respectively. At the end of distraction, ONs were elongated (+1.8 mm for curved lengths, p = 0.013), and their mean cross-section was reduced (-1.9 mm2, p < 0.001) in the proximal intraorbital portion (first 15 mm). In the 2 patients with visual symptoms, functional impairment was associated with ON area reduction (OR 0.487, p < 0.001) and increased temporo-zygomatic distraction amplitude (OR 2.240, p < 0.001). CONCLUSIONS: ON was elongated during FFMBA, with proximal diameter reduction. Transient visual impairment with normal fundus examination during distraction seemed to have a morphological basis, based on 2 cases. These results suggest the importance of vision monitoring associated with fundus examination during distraction, and advocate for early extubation after FFMBA to allow clinical follow-up.

3.
Dev Dyn ; 2024 Aug 01.
Article in English | MEDLINE | ID: mdl-39087648

ABSTRACT

BACKGROUND: Meis family of transcription factors operates in Pbx-Meis-Hox regulatory network controlling development of various tissues including eye, limbs, heart, hindbrain or craniofacial skeletal elements originating from the neural crest. Although studies in mouse provide abundant information about Meis factors function in embryogenesis, little is known about their role in zebrafish. RESULTS: We generated zebrafish lines carrying null mutations in meis1a, meis1b, meis2a, and meis2b genes. Only meis1b mutants are lethal at larval stage around 13 dpf whereas the other mutant lines are viable and fertile. We focused on development of neural crest-derived craniofacial structures such as tendons, cranial nerves, cartilage and accompanying muscles. Meis1b mutants displayed morphogenetic abnormalities in the cartilage originating from the first and second pharyngeal arches. Meckel's cartilage was shorter and wider with fused anterior symphysis and abnormal chondrocyte organization. This resulted in impaired tendons and muscle fiber connections while tenocyte development was not largely affected. CONCLUSIONS: Loss-of-function mutation in meis1b affects cartilage morphology in the lower jaw that leads to disrupted organization of muscles and tendons.

4.
J Anat ; 2024 Aug 02.
Article in English | MEDLINE | ID: mdl-39096036

ABSTRACT

Crouzon syndrome is a congenital craniofacial disorder caused by mutations in the Fibroblast Growth Factor Receptor 2 (FGFR2). It is characterized by the premature fusion of cranial sutures, leading to a brachycephalic head shape, and midfacial hypoplasia. The aim of this study was to investigate the effect of the FGFR2 mutation on the microarchitecture of cranial bones at different stages of postnatal skull development, using the FGFR2C342Y mouse model. Apart from craniosynostosis, this model shows cranial bone abnormalities. High-resolution synchrotron microtomography images of the frontal and parietal bone were acquired for both FGFR2C342Y/+ (Crouzon, heterozygous mutant) and FGFR2+/+ (control, wild-type) mice at five ages (postnatal days 1, 3, 7, 14 and 21, n = 6 each). Morphometric measurements were determined for cortical bone porosity: osteocyte lacunae and canals. General linear model to assess the effect of age, anatomical location and genotype was carried out for each morphometric measurement. Histological analysis was performed to validate the findings. In both groups (Crouzon and wild-type), statistical difference in bone volume fraction, average canal volume, lacunar number density, lacunar volume density and canal volume density was found at most age points, with the frontal bone generally showing higher porosity and fewer lacunae. Frontal bone showed differences between the Crouzon and wild-type groups in terms of lacunar morphometry (average lacunar volume, lacunar number density and lacunar volume density) with larger, less dense lacunae around the postnatal age of P7-P14. Histological analysis of bone showed marked differences in frontal bone only. These findings provide a better understanding of the pathogenesis of Crouzon syndrome and will contribute to computational models that predict postoperative changes with the aim to improve surgical outcome.

5.
Anat Histol Embryol ; 53(5): e13097, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39092540

ABSTRACT

The temporomandibular joint (TMJ) ligaments play crucial roles in its function or dysfunction. The objective of this study was to describe the macro and microscopic morphology of these ligaments in domestic pigs, aiming to: (1) expand knowledge about the species; (2) provide anatomical references for advancing veterinary therapy and utilizing pigs as animal models in craniofacial research. Heads of young Sus scrofa domesticus were dissected to identify TMJ ligaments. Fragments of these ligaments were collected and processed for subsequent histological analysis with Haematoxylin and eosin staining. The results were qualitatively described. Pigs exhibited a TMJ reinforced by three individualized capsular ligaments: a lateral ligament, attaching to the ventral margin of the zygomatic process of the temporal bone and the lateral margin of the mandibular neck; a caudomedial ligament, attaching to the retroarticular process of the squamous part of the temporal bone and the caudomedial margin of the mandibular neck and a caudolateral ligament, attaching to the ventral margin of the base of the zygomatic process of the temporal bone and the caudal margin of the mandibular neck. The lateral ligament exhibited a greater constitution of dense irregular connective tissue, while the caudomedial and caudolateral ligaments showed a greater constitution of dense regular connective tissue. It is concluded that the TMJ of pigs presents one more ligament than horses, cattle, dogs, cats and what has been described for pigs themselves. We believe these results may contribute to the improvement of veterinary clinical and surgical therapy overall, as well as provide essential morphological information for a better interpretation and application of interspecies results in craniofacial research using pigs as an experimental model, as in the case of humans.


Subject(s)
Ligaments, Articular , Temporomandibular Joint , Animals , Temporomandibular Joint/anatomy & histology , Ligaments, Articular/anatomy & histology , Sus scrofa/anatomy & histology , Temporal Bone/anatomy & histology , Swine/anatomy & histology , Female , Ligaments/anatomy & histology , Male
6.
JBMR Plus ; 8(9): ziae089, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39108358

ABSTRACT

Jansen metaphyseal chondrodysplasia (JMC) is an ultra-rare disorder caused by germline heterozygous PTHR1 variants resulting in constitutive activation of parathyroid hormone type 1 receptor. A description of ocular manifestations of the disease is lacking. Six patients with JMC underwent a detailed ophthalmic evaluation, spectral-domain optical coherence tomography (OCT), visual field testing, and craniofacial CT scans. Five of 6 patients had good visual acuity. All patients had widely spaced eyes; 5/6 had downslanted palpebral fissures. One patient had proptosis, and another had bilateral ptosis. Two patients had incomplete closure of the eyelids (lagophthalmos), one had a history of progressive right facial nerve palsy with profuse epiphora, while the second had advanced optic nerve atrophy with corresponding retinal nerve fiber layer (RNFL) thinning on OCT and significant bilateral optic canal narrowing on CT scan. Additionally, this patient also had central visual field defects and abnormal color vision. A third patient had normal visual acuity, subtle temporal pallor of the optic nerve head, normal average RNFL, but decreased temporal RNFL and retinal ganglion cell layer analysis (GCA) on OCT. GCA was decreased in 4/6 patients indicating a subclinical optic nerve atrophic process. None of the patients had glaucoma or high myopia. These data represent the first comprehensive report of ophthalmic findings in JMC. Patients with JMC have significant eye findings associated with optic canal narrowing due to extensive skull base dysplastic bone overgrowth that appear to be more prevalent and pronounced with age. Progressive optic neuropathy from optic canal narrowing may be a feature of JMC, and OCT GCA can serve as a useful biomarker for progression in the setting of optic canal narrowing. We suggest that patients with JMC should undergo regular ophthalmic examination including color vision, OCT, visual field testing, orbital, and craniofacial imaging.

7.
Cleft Palate Craniofac J ; : 10556656241272449, 2024 Aug 06.
Article in English | MEDLINE | ID: mdl-39105332

ABSTRACT

BACKGROUND: With the advent of improved prenatal detection, some patients with facial clefting are diagnosed prenatally while others are diagnosed postnatally. There is limited data regarding the utility of prenatal diagnosis and how this affects care of patients with facial clefts. METHODS AND MATERIALS: A retrospective chart review was performed. Children with incomplete demographic data and those with syndromic conditions were excluded. The data were analyzed via Fisher's exact tests and Kruskal-Wallis tests (p < 0.05). RESULTS: 106 patients met inclusion criteria. Facial clefting was diagnosed prenatally at different frequencies depending on type of facial cleft- patients with cleft palate alone were less likely to be identified prenatally (p < 0.0001). Patients diagnosed prenatally were seen by craniofacial specialists at an earlier age compared to those diagnosed after birth (0.27 months vs 0.7 months, p < 0.001). Similarly, those with prenatal diagnosis underwent surgery at a younger age compared to those who were diagnosed postnatally (median: 3.6 months vs 10.67 months, p < 0.001) and experienced shorter lag time (median: 3.4 months vs 8.4 months, p = 0.027) from consultation to surgery. Importantly, prenatal diagnosis resulted in pre-surgical therapy more often than in children diagnosed postnatally (86% vs 22.2%, p < 0.001). CONCLUSIONS: Our data suggests that patients with prenatal diagnosis of facial clefts were more likely to undergo pre-surgical therapy, presented to a craniofacial specialist at an earlier age, underwent surgery at an earlier age, and experienced less lag time between initial visit and surgery. More study is warranted to improve protocols for prenatal diagnoses to improve surgical outcomes.

8.
Case Reports Plast Surg Hand Surg ; 11(1): 2365174, 2024.
Article in English | MEDLINE | ID: mdl-38978691

ABSTRACT

The importance of multimodality in the diagnosis and treatment of medical conditions cannot be overemphasized. Herewith a case of facial malignancy encompassing all stages of management and requiring multimodal approaches for diagnosis, oncological treatment, anatomical reconstruction, and ultimately aesthetics and "identity" is presented.

9.
ANZ J Surg ; 2024 Jul 01.
Article in English | MEDLINE | ID: mdl-38946707

ABSTRACT

BACKGROUND: Advanced skull base malignancies are a heterogenous subset of head and neck cancers, and management is often complex. In recent times, there has been a paradigm shift in surgical technique and the advent of novel systemic options. Our goal was to analyse the long-term outcomes of a single quaternary head and neck and skull base service. METHODS: A retrospective review of 127 patients with advanced anterior skull base malignancies that were treated at our institution between 1999 and 2015 was performed. Multiple variables were investigated to assess their significance on 5 and 10-year outcomes. RESULTS: The mean age was 60.9 (± 12.6 SD). Sixty-four percent were males and 36% were females. Ninety percent of patients had T4 disease. Median survival time was 133 months. The 5-year overall survival (OS) was 66.2%, disease-specific survival (DSS) was 74.7%, and recurrence-free survival (RFS) was 65.0%. The 10-year OS was 55.1%, DSS was 72.1%, and RFS was 53.4%. Histological type and margin status significantly affected OS & DSS. CONCLUSION: Surgical management of advanced skull base tumours has evolved over the last few decades at our institution with acceptable survival outcomes and complication rates. Histological diagnosis and margin status are the main predictors of survival. The addition of neoadjuvant systemic agents in current trials may improve outcomes.

10.
J Dev Biol ; 12(3)2024 Jul 06.
Article in English | MEDLINE | ID: mdl-39051201

ABSTRACT

Frontonasal malformations are caused by a failure in the growth of the frontonasal prominence during development. Although genetic studies have identified genes that are crucial for frontonasal development, it remains largely unknown how these genes are regulated during this process. Here, we show that microRNAs, which are short non-coding RNAs capable of targeting their target mRNAs for degradation or silencing their expression, play a crucial role in the regulation of genes related to frontonasal development in mice. Using the Mouse Genome Informatics (MGI) database, we curated a total of 25 mouse genes related to frontonasal malformations, including frontonasal hypoplasia, frontonasal dysplasia, and hypotelorism. MicroRNAs regulating the expression of these genes were predicted through bioinformatic analysis. We then experimentally evaluated the top three candidate miRNAs (miR-338-5p, miR-653-5p, and miR-374c-5p) for their effect on cell proliferation and target gene regulation in O9-1 cells, a neural crest cell line. Overexpression of these miRNAs significantly inhibited cell proliferation, and the genes related to frontonasal malformations (Alx1, Lrp2, and Sirt1 for miR-338-5p; Alx1, Cdc42, Sirt1, and Zic2 for miR-374c-5p; and Fgfr2, Pgap1, Rdh10, Sirt1, and Zic2 for miR-653-5p) were directly regulated by these miRNAs in a dose-dependent manner. Taken together, our results highlight miR-338-5p, miR-653-5p, and miR-374c-5p as pathogenic miRNAs related to the development of frontonasal malformations.

11.
Children (Basel) ; 11(7)2024 Jun 28.
Article in English | MEDLINE | ID: mdl-39062241

ABSTRACT

Introduction: A plethora of biological molecules regulate chondrogenesis in the epiphyseal growth plate. Disruptions of the quantity and function of these molecules can manifest clinically as stature abnormalities of various etiologies. Traditionally, the growth hormone/insulin-like growth factor 1 (IGF1) axis represents the etiological centre of final stature attainment. Of note, little is known about the molecular events that dominate the growth of the craniofacial complex and its correlation with somatic stature. Aim: Given the paucity of relevant data, this review discusses available information regarding potential applications of lateral cephalometric radiography as a potential clinical indicator of genetic short stature in children. Materials and Methods: A literature search was conducted in the PubMed electronic database using the keywords: cephalometric analysis and short stature; cephalometric analysis and achondroplasia; cephalometric analysis and hypochondroplasia; cephalometric analysis and skeletal abnormalities; cephalometr* and SHOX; cephalometr* and CNP; cephalometr* and ACAN; cephalometr* and CNVs; cephalometr* and IHH; cephalometr* and FGFR3; cephalometr* and Noonan syndrome; cephalometr* and "Turner syndrome"; cephalometr* and achondroplasia. Results: In individuals with genetic syndromes causing short stature, linear growth of the craniofacial complex is confined, following the pattern of somatic short stature regardless of its aetiology. The angular and linear cephalometric measurements differ from the measurements of the average normal individuals and are suggestive of a posterior placement of the jaws and a vertical growth pattern of the face. Conclusions: The greater part of the existing literature regarding cephalometric measurements in short-statured children with genetic syndromes provides qualitative data. Furthermore, cephalometric data for individuals affected with specific rare genetic conditions causing short stature should be the focus of future studies. These quantitative data are required to potentially establish cut-off values for reference for genetic testing based on craniofacial phenotypes.

12.
Birth Defects Res ; 116(7): e2380, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38980211

ABSTRACT

BACKGROUND: Fontaine progeroid syndrome (FPS, OMIM 612289) is a recently identified genetic disorder stemming from pathogenic variants in the SLC25A24 gene, encoding a mitochondrial carrier protein. It encompasses Gorlin-Chaudry-Moss syndrome and Fontaine-Farriaux syndrome, primarily manifesting as craniosynostosis with brachycephaly, distinctive dysmorphic facial features, hypertrichosis, severe prenatal and postnatal growth restriction, limb shortening, and early aging with characteristic skin changes, phalangeal anomalies, and genital malformations. CASES: All known occurrences of FPS have been postnatally observed until now. Here, we present the first two prenatal cases identified during the second trimester of pregnancy. While affirming the presence of most postnatal abnormalities in prenatal cases, we note the absence of a progeroid appearance in young fetuses. Notably, our reports introduce new phenotypic features like encephalocele and nephromegaly, which were previously unseen postnatally. Moreover, paternal SLC25A24 mosaicism was detected in one case. CONCLUSIONS: We present the initial two fetal instances of FPS, complemented by thorough phenotypic and genetic assessments. Our findings expand the phenotypical spectrum of FPS, unveiling new fetal phenotypic characteristics. Furthermore, one case underscores a potential novel inheritance pattern in this disorder. Lastly, our observations emphasize the efficacy of exome/genome sequencing in both prenatal and postmortem diagnosis of rare polymalformative syndromes with a normal karyotype and array-based comparative genomic hybridization (CGH).


Subject(s)
Mosaicism , Phenotype , Prenatal Diagnosis , Progeria , Adult , Female , Humans , Male , Pregnancy , Antiporters , Calcium-Binding Proteins , Fetus , Genotype , Mitochondrial Proteins/genetics , Mosaicism/embryology , Mutation/genetics , Prenatal Diagnosis/methods , Progeria/genetics
13.
Front Cell Dev Biol ; 12: 1370905, 2024.
Article in English | MEDLINE | ID: mdl-39071803

ABSTRACT

Neurodevelopmental proteasomopathies constitute a recently defined class of rare Mendelian disorders, arising from genomic alterations in proteasome-related genes. These alterations result in the dysfunction of proteasomes, which are multi-subunit protein complexes essential for maintaining cellular protein homeostasis. The clinical phenotype of these diseases manifests as a syndromic association involving impaired neural development and multisystem abnormalities, notably craniofacial anomalies and malformations of the cardiac outflow tract (OFT). These observations suggest that proteasome loss-of-function variants primarily affect specific embryonic cell types which serve as origins for both craniofacial structures and the conotruncal portion of the heart. In this hypothesis article, we propose that neural crest cells (NCCs), a highly multipotent cell population, which generates craniofacial skeleton, mesenchyme as well as the OFT of the heart, in addition to many other derivatives, would exhibit a distinctive vulnerability to protein homeostasis perturbations. Herein, we introduce the diverse cellular compensatory pathways activated in response to protein homeostasis disruption and explore their potential implications for NCC physiology. Altogether, the paper advocates for investigating proteasome biology within NCCs and their early cranial and cardiac derivatives, offering a rationale for future exploration and laying the initial groundwork for therapeutic considerations.

14.
Heliyon ; 10(13): e33336, 2024 Jul 15.
Article in English | MEDLINE | ID: mdl-39050473

ABSTRACT

Background: Fibrous dysplasia is a benign fibro-osseous lesion where normal bone is replaced with immature dysplastic woven bone and fibrous tissue. Fibrous dysplasia has the potential to involve multiple bones of the craniofacial area in a rare condition. Management of this involvement type should be assessed carefully. Case report: Here, we report a 52-year-old man with progressive and bilateral frontal headache. The radio/pathologic diagnosis revealed fibrous dysplasia of paranasal sinuses with anterior skull-base extension and pneumocephalus. The patient underwent a craniotomy, and 2 weeks after the procedure, the symptoms were alleviated without any complications. Conclusion: in case of fibrous dysplasia, patients with new onset and/or mild symptoms may have extensive lesions in multiple craniofacial bones.

15.
Cleft Palate Craniofac J ; : 10556656241256728, 2024 Jul 25.
Article in English | MEDLINE | ID: mdl-39051559

ABSTRACT

OBJECTIVE: Custom prescription helmets for plagiocephaly may be a significant financial burden for families, especially when not covered by insurance. This study aims to identify factors that influence the success of crowdsourcing campaigns for this therapy. DESIGN: GoFundMe campaigns were collected by searching terms such as "plagiocephaly" and "baby helmet." Two reviewers analyzed each campaign for variables, including demographic data, story elements, and photo characteristics. Univariate logistic regression was used to determine each variable's impact on success, defined as attaining ≥75% of a campaign goal and significance of p ≤ 0.05. RESULTS: Campaign data from 2011 to 2022 were analyzed. Initial search yielded 1464 campaigns; among these 413 met final inclusion criteria. On average, campaigns raised $2005 (range: $0-$7799) and requested $3151 (range: $160-$30,000). In total, 228 (54%) achieved success, 167 (40%) met their goal, and 35 (8%) raised no funds. A total of $828,256 was raised from the requested $1,301,317. The average reported age was six months (range: 2-17 m). Significant factors associated with success were military affiliation, providing multiple images, including a quoted cost, providing campaign updates, indicating a sense of urgency, diagnosis of torticollis, and mentioning possible complications without treatment. Raising additional funds for therapy, multiple helmets, and unrelated medical costs negatively impacted success. Racial disparities were observed between campaigns. Additionally, regional differences were noted between campaigns. CONCLUSIONS: Crowdsourcing can be a successful endeavor for some families experiencing financial hardships from helmet therapy. This study highlights current gaps within healthcare coverage for helmet treatment and identifies various factors influencing crowdfunding campaigns.

16.
Article in French | MEDLINE | ID: mdl-39060149

ABSTRACT

The MASK lift or subperiosteal lift of the upper and middle thirds of the face is a procedure that can be performed alone for aesthetic purposes, but can also be combined with reconstructive surgery of this region to improve the result. This procedure will enable the overall result to be enhanced in the management of complex pathologies. The aim of this article is to present the MASK lift surgical technique in detail, to explain its indications and to show that this surgical technique still has a place in our practice.

17.
Article in French | MEDLINE | ID: mdl-39060146

ABSTRACT

Superior orbital frontal clefts are one of the rare craniofacial clefts described by Tessier in 1976, and occur most often sporadically. They are numbered 9, 10 and 11 in this classification, and are located respectively laterally, in the middle and medially to the upper part of the orbit. Their clinical expression is variable on soft tissue and bone, with possible dissociation of involvement. They range from a simple aesthetic defect to an eyes functional prognosis. CT scans are systematically required in this context. Their management must be adapted to the polymorphism of the damage, and is based on multidisciplinary approach. In case of ocular risk, the eyelid reconstruction is an emergency. In all other cases, treatment is deferred, but must be carried out at an early stage to ensure the child's healthy development.

18.
Front Cell Dev Biol ; 12: 1415653, 2024.
Article in English | MEDLINE | ID: mdl-39011393

ABSTRACT

Although dose-response analyses are a fundamental tool in developmental toxicology, few studies have examined the impacts of toxicant dose on the non-genetic paternal inheritance of offspring disease and dysgenesis. In this study, we used geometric morphometric analyses to examine the impacts of different levels of preconception paternal alcohol exposure on offspring craniofacial shape and symmetry in a mouse model. Procrustes ANOVA followed by canonical variant analysis of geometric facial relationships revealed that Low-, Medium-, and High-dose treatments each induced distinct changes in craniofacial shape and symmetry. Our analyses identified a dose threshold between 1.543 and 2.321 g/kg/day. Below this threshold, preconception paternal alcohol exposure induced changes in facial shape, including a right shift in facial features. In contrast, above this threshold, paternal exposures caused shifts in both shape and center, disrupting facial symmetry. Consistent with previous clinical studies, changes in craniofacial shape predominantly mapped to regions in the lower portion of the face, including the mandible (lower jaw) and maxilla (upper jaw). Notably, high-dose exposures also impacted the positioning of the right eye. Our studies reveal that paternal alcohol use may be an unrecognized factor contributing to the incidence and severity of alcohol-related craniofacial defects, complicating diagnostics of fetal alcohol spectrum disorders.

19.
Clin Oral Investig ; 28(7): 409, 2024 Jul 02.
Article in English | MEDLINE | ID: mdl-38954126

ABSTRACT

OBJECTIVES: Orofacial clefts are complex congenital anomalies that call for comprehensive treatment based on a thorough assessment of the anatomy. This study aims to examine the effect of cleft type on craniofacial morphology using geometric morphometrics. MATERIALS AND METHODS: We evaluated lateral cephalograms of 75 patients with bilateral cleft lip and palate, 63 patients with unilateral cleft lip and palate, and 76 patients with isolated cleft palate. Generalized Procrustes analysis was performed on 16 hard tissue landmark coordinates. Shape variability was studied with principal component analysis. In a risk model approach, the first nine principal components (PC) were used to examine the effect of cleft type. RESULTS: We found statistically significant differences in the mean shape between cleft types. The difference is greatest between bilateral cleft lip and palate and isolated cleft palate (distance of means 0.026, P = 0.0011). Differences between cleft types are most pronounced for PC4 and PC5 (P = 0.0001), which together account for 10% of the total shape variation. PC4 and PC5 show shape differences in the ratio of the upper to the lower face, the posterior mandibular height, and the mandibular angle. CONCLUSIONS: Cleft type has a statistically significant but weak effect on craniofacial morphological variability in patients with non-syndromic orofacial clefts, mainly in the vertical dimension. CLINICAL RELEVANCE: Understanding the effects of clefts on craniofacial morphology is essential to providing patients with treatment tailored to their specific needs. This study contributes to the literature particularly due to our risk model approach in lieu of a prediction model.


Subject(s)
Anatomic Landmarks , Cephalometry , Cleft Lip , Cleft Palate , Humans , Cleft Palate/pathology , Cleft Lip/pathology , Male , Female , Adolescent , Child , Principal Component Analysis
20.
Data Brief ; 55: 110622, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39040549

ABSTRACT

This dataset features 200 sagittal projection images derived from Cone Beam Computed Tomography (CBCT) scans, corrected according to the Natural Head Position (NHP) guidelines proposed by Fredrik Lundström and Anders Lundström. The images originate from orthodontic patients in Cali, Valle del Cauca, Colombia, encompassing both initial phases and ongoing treatments. The dataset is divided into two groups: 100 images from female subjects (CoF) and 100 from male subjects (CoM), facilitating gender-specific studies. The dataset is accompanied by an Excel file ``Data info.xlsx'' that details the rotation angles in the axial (Yaw), coronal (Roll), and sagittal (Pitch) planes, along with the pixel size and image dimensions. This detailed documentation supports the replication of studies and aids in the interpretation of cephalometric analyses. Corrections made to align the images with NHP standards involve adjustments in the three main anatomical planes using points from the frontozygomatic suture (Fz) in the axial and coronal planes, and sella (S) and nasion (N) for the sagittal plane.

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