scholarly journals Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method

2021 ◽  
pp. jmedgenet-2021-107695
Author(s):  
Konstantinia Almpani ◽  
Denise K. Liberton ◽  
Priyam Jani ◽  
Cyrus Keyvanfar ◽  
Rashmi Mishra ◽  
...  
Keyword(s):  
Transforming Growth Factor ◽  
Cranial Base ◽  
Temporomandibular Joint Disorders ◽  
Geometric Morphometric ◽  
Pharyngeal Airway ◽  
Anterior Cranial Base ◽  
Obstructive Sleep ◽  
Functional Features ◽  
Maxilla And Mandible ◽  
The Impact

BackgroundElevated transforming growth factor-beta (TGF-β) signalling has been implicated in the pathogenesis of Loeys-Dietz syndrome (LDS) and Shprintzen-Goldberg syndrome (SGS). In this study, we provide a qualitative and quantitative analysis of the craniofacial and functional features among the LDS subtypes and SGS.MethodsWe explore the variability within and across a cohort of 44 patients through deep clinical phenotyping, three-dimensional (3D) facial photo surface analysis, cephalometric and geometric morphometric analyses of cone-beam CT scans.ResultsThe most common craniofacial features detected in this cohort include mandibular retrognathism (84%), flat midface projection (84%), abnormal eye shape (73%), low-set ears (73%), abnormal nose (66%) and lip shape (64%), hypertelorism (41%) and a relatively high prevalence of nystagmus/strabismus (43%), temporomandibular joint disorders (38%) and obstructive sleep apnoea (23%). 3D cephalometric analysis demonstrated an increased cranial base angle with shortened anterior cranial base and underdevelopment of the maxilla and mandible, with evidence of a reduced pharyngeal airway in 55% of those analysed. Geometric morphometric analysis confirmed that the greatest craniofacial shape variation was among patients with LDS type 2, with distinct clustering of patients with SGS.ConclusionsThis comprehensive phenotypic approach identifies developmental abnormalities that segregate to mutation variants along the TGF-β signalling pathway, with a particularly severe phenotype associated with TGFBR2 and SKI mutations. Multimodality assessment of craniofacial anomalies objectively reveals the impact of mutations of the TGF-β pathway with perturbations associated with the cranium and cranial base with severe downstream effects on the orbit, maxilla and mandible with the resultant clinical phenotypes.

scholarly journals Early detection possibilities of obstructive sleep apnoea syndrome

2012 ◽  
Vol 140 (3-4) ◽  
pp. 159-163 ◽  
Author(s):  
Predrag Vucinic ◽  
Branka Vukic-Culafic ◽  
Stojan Ivic
Keyword(s):  
Clinical Features ◽  
Obstructive Sleep Apnoea ◽  
Cranial Base ◽  
Sleep Apnoea ◽  
Mouth Breathing ◽  
Base Length ◽  
Anterior Cranial Base ◽  
Obstructive Sleep ◽  
Apical Base ◽  
Maxillary Arch

Introduction. Obstructive sleep apnoea (OSA) syndrome represents a significant medical problem due to numerous consequences that may follow it. Objective. The aim of the study was to analyze morphology of the maxilla in children with mouth breathing, and to assess possible characteristics in persons with marked clinical features of OSA. Methods. The sample comprised of 60 examinees aged from 8-10 years, all mouth-breathers. The following X-ray cephalometric parameters were measured: angle of maxillary pragmatism, cranial base angle, angle between the palatal plane and the anterior cranial base, maxillary length, distance from the most prominent labial surface of the maxillary central incisor to NA line, angle between the axis of the upper maxillary incisor and NA line. Following parameters were obtained from the casts: anterior and posterior width of the maxillary arch, height of the maxillary arch, index of the palatal height, as well as the apical base length. Assessed values were then compared to the corresponding norms. Results. Compared to the corresponding norms, statistically significant lower values were determined for the following parameters of the sample: SpP/SN, AW, PW, AB. Conclusion. Analysis of the morphological characteristics of the maxilla in mouth breathing children showed characteristics also present in persons with marked clinical features of OSA syndrome, such as a narrow maxilla, insufficient apical base length, as well as the reduced angle of the palatal plane angle to the anterior cranial base. All these suggest a possible increased risk of developing OSA syndrome in children?s later age.

scholarly journals Review the Impact of Mandibular Setback Surgery for the Correction of Class III Malocclusion on the Upper Airway Space

2021 ◽  
Vol 9 (F) ◽  
pp. 644-649
Author(s):  
Dareen Aljehani
Keyword(s):  
Upper Airway ◽  
Class Iii ◽  
Class Iii Malocclusion ◽  
Eligibility Criteria ◽  
Pharyngeal Airway ◽  
Mandibular Setback ◽  
Obstructive Sleep ◽  
Mandibular Setback Surgery ◽  
The Impact

AIM: This study aimed to review the scientific evidence related to the effect of mandibular setback surgery for the correction of Class III malocclusion on the changes in volume and anatomical structures’ positions of the upper airway within at least 1 year follow-up. METHODS: An electronic research was conducted on PubMed, Google scholar, and Elsevier up to April 20, 2021, the inclusion criteria were prospective or retrospective studies aiming to compare the changes in upper airway space following isolated mandibular setback through at least 1 year of follow-up. RESULTS: A total of 84 studies were retrieved, only 12 studies met the eligibility criteria. Their methods of measurement were using lateral cephalometry, CT, or Cone-beam computed tomography. Most of them showed narrowing in the Pharyngeal airway space, with some variability within the follow-up periods. Impact on the possibility of obstructive sleep apnea (OSA) was discussed in most of the included studies. CONCLUSION: Narrowing of upper airway volume is associated with isolated mandibular setback surgeries within 1 year of follow-up. However, OSA was not necessarily a consequence. Any predisposing factors for OSA should be considered before isolated mandibular setback surgery.

scholarly journals Craniofacial Analysis May Indicate Co-Occurrence of Skeletal Malocclusions and Associated Risks in Development of Cleft Lip and Palate

2020 ◽  
Vol 8 (1) ◽  
pp. 2 ◽  
Author(s):  
Denise K. Liberton ◽  
Payal Verma ◽  
Konstantinia Almpani ◽  
Peter W. Fung ◽  
Rashmi Mishra ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Morphological Changes ◽  
Principal Component ◽  
Craniofacial Morphology ◽  
Geometric Morphometric ◽  
Dentofacial Deformities ◽  
Dentofacial Deformity ◽  
Maxilla And Mandible ◽  
The Impact

Non-syndromic orofacial clefts encompass a range of morphological changes affecting the oral cavity and the craniofacial skeleton, of which the genetic and epigenetic etiologic factors remain largely unknown. The objective of this study is to explore the contribution of underlying dentofacial deformities (also known as skeletal malocclusions) in the craniofacial morphology of non-syndromic cleft lip and palate patients (nsCLP). For that purpose, geometric morphometric analysis was performed using full skull cone beam computed tomography (CBCT) images of patients with nsCLP (n = 30), normocephalic controls (n = 60), as well as to sex- and ethnicity- matched patients with an equivalent dentofacial deformity (n = 30). Our outcome measures were shape differences among the groups quantified via principal component analysis and associated principal component loadings, as well as mean shape differences quantified via a Procrustes distance among groups. According to our results, despite the shape differences among all three groups, the nsCLP group shares many morphological similarities in the maxilla and mandible with the dentofacial deformity group. Therefore, the dentoskeletal phenotype in nsCLP could be the result of the cleft and the coexisting dentofacial deformity and not simply the impact of the cleft.

scholarly journals Craniofacial shape in patients with beta thalassaemia: a geometric morphometric analysis

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Petros Roussos ◽  
Anastasia Mitsea ◽  
Demetrios Halazonetis ◽  
Iosif Sifakakis
Keyword(s):  
Principal Component ◽  
Cranial Base ◽  
Control Group ◽  
Geometric Morphometric ◽  
Beta Thalassaemia ◽  
Mandibular Body ◽  
Geometric Morphometric Analysis ◽  
And Gender ◽  
Maxilla And Mandible ◽  
Craniofacial Complex

AbstractThe shape of the craniofacial complex of patients with beta thalassaemia was evaluated using geometric morphometrics on lateral cephalometric radiographs and was compared with matched controls. The beta thalassaemia group consisted of 40 patients (16 females, 24 males, mean age 33.4). Each patient was matched by age and gender to two controls (32 females, 48 males, mean age 33.1). The 120 lateral cephalometric radiographs were digitized and traced with 15 curves, 10 landmarks and 117 sliding semi-landmarks. These landmarks were subjected to Procrustes superimposition and principal component analysis in order to describe shape variability of the cranial base, maxilla and mandible, as well as of the entire craniofacial complex for each sex. The first 4 principal components accounted for 50% of the total sample’s variability. The beta thalassaemia group was significantly different in overall shape to the control group for both sexes. Similar findings were noted for the maxilla, the mandible and the cranial base. The main differences were related to smaller mandibular body for the thalassaemia group, midface protrusion and decrease in posterior face height. The shape of the craniofacial complex in these patients is prone to be more convex and hyperdivergent.

Meningoencephalocele: a late complication of Le Fort III midfacial advancement in a patient with Crouzon syndrome

2010 ◽  
Vol 6 (4) ◽  
pp. 368-371
Author(s):  
Emily B. Ridgway ◽  
Alexander E. Ropper ◽  
John B. Mulliken ◽  
Bonnie L. Padwa ◽  
Liliana C. Goumnerova
Keyword(s):  
Cranial Base ◽  
Cerebral Injury ◽  
Unusual Complication ◽  
Crouzon Syndrome ◽  
Csf Rhinorrhea ◽  
Le Fort ◽  
Le Fort Iii ◽  
Anterior Cranial Base ◽  
Obstructive Sleep ◽  
Computed Tomography Scanning

Complications of Le Fort III midfacial advancement include CSF rhinorrhea, meningitis, and ocular and cerebral injury. This report reviews the anatomy of the Le Fort III osteotomies and their relevance to the unusual complication of meningoencephalocele. In this report, a young male patient with Crouzon syndrome underwent subcranial midfacial advancement at the age of 10 years for obstructive sleep apnea and ocular exposure. He presented 4 years later complaining of nasal obstruction. On physical examination, a mucous-covered mass was noted in the left upper nasal vault medial to the turbinates. Computed tomography scanning and MR imaging confirmed the diagnosis of frontoethmoidal meningoencephalocele. Repair of the meningoencephalocele was accomplished using a combined neurosurgery and plastic surgery approach. Meningoencephalocele is a rare complication of subcranial midfacial advancement. The abnormal anatomy of the anterior cranial base in patients with syndromic craniosynostosis places them at greater risk for fracture of the cribriform plate and dural tears during this procedure. Unrecognized dural injury is the etiology of this complication in this young patient; however, elevated intracranial pressure may have been a confounding factor. Attention to the anatomy of the anterior cranial base, as seen on sagittal CT images, will aid in preventing this complication.

Sinonasal Symptom Outcomes following Endoscopic Anterior Cranial Base Surgery in the Pediatric Population

2021 ◽  
Author(s):  
Taylor R. Carle ◽  
Vivian Wung ◽  
Anthony P. Heaney ◽  
Harvey K. Chiu ◽  
Jeffrey D. Suh ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Postoperative Period ◽  
Pediatric Population ◽  
Cranial Base ◽  
Nasal Discharge ◽  
Anterior Cranial Base ◽  
The Mean ◽  
The Impact ◽  
Snot 22

Abstract Objective This study aimed to evaluate the impact of endoscopic anterior cranial base (ACB) surgery on sinonasal symptoms in the pediatric population utilizing the Sino-Nasal Outcome Test (SNOT)-22 questionnaire. Design This is a retrospective review. Setting The study was conducted at a tertiary academic medical center. Participants Thirty-four consecutive patients, age 6 to 17 years, M:F 14:20, who underwent endoscopic ACB surgery from July 2008 to August 2019. Ten patients had baseline and a minimum of two subsequent postoperative SNOT-22 questionnaires available for analysis. Main Outcome Measures Baseline and postoperative SNOT-22 scores were compared. The mean change from baseline sinonasal symptom scores in the pediatric and historical adult cohorts was compared. Results The mean baseline SNOT-22 score for our 10 patient cohort was 0.46 out of 5 for each of the first 10 sinonasal-specific questions. This worsened to 1.69 at 1 month and returned to near baseline, 0.7, at 3 months postoperatively. The mean quality-of-life score improved to 0.91 at 1 month and 0.6 at 3 months postoperatively. The mean change from baseline for the following items: need to blow nose, runny nose, postnasal discharge, thick nasal discharge, wake up at night, reduced concentration, and frustrated/restless/irritable were similar to those in our historical adult cohort at 3 months postoperatively. Conclusion Endoscopic ACB surgery in the pediatric population results in increased sinonasal symptom morbidity in the early postoperative period; however, symptoms return to near baseline by ∼3 months, and quality-of-life scores progressively improve in the postoperative period. These trends were similar to those seen in our historic adult cohort.

scholarly journals Anatomical Balance of the Upper Airway and Obstructive Sleep Apnea

2008 ◽  
Vol 108 (6) ◽  
pp. 1009-1015 ◽  
Author(s):  
Satoru Tsuiki ◽  
Shiroh Isono ◽  
Teruhiko Ishikawa ◽  
Yoshihiro Yamashiro ◽  
Koichiro Tatsumi ◽  
...  
Keyword(s):  
Obstructive Sleep Apnea ◽  
Sleep Apnea ◽  
Adult Male ◽  
Upper Airway ◽  
Cross Sectional ◽  
Pharyngeal Airway ◽  
Soft Tissue Volume ◽  
Obstructive Sleep ◽  
Lateral Cephalograms ◽  
Maxilla And Mandible

Background Obesity and craniofacial abnormalities such as small maxilla and mandible are common features of patients with obstructive sleep apnea (OSA). The authors hypothesized that anatomical imbalance between the upper airway soft-tissue volume and the craniofacial size (rather than each alone) may result in pharyngeal airway obstruction during sleep, and therefore development of OSA. Methods Blind measurements of tongue cross-sectional area and craniofacial dimensions were performed through lateral cephalograms in 50 adult male patients with OSA and 55 adult male non-OSA subjects with various craniofacial dimensions. Results Maxillomandibular dimensions were matched between OSA and non-OSA groups. While the tongue was significantly larger in subjects with larger maxillomandible dimensions, OSA patients had a significantly larger tongue for a given maxillomandible size than non-OSA subjects. The hypothesis was also supported in subgroups matched for both body mass index and maxillomandible dimensions. Conclusions Upper airway anatomical imbalance is involved in the pathogenesis of OSA.

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