Frontal Prominence Research Articles

Forehead shape analysis following surgical and conservative treatment in metopic synostosis: a 3D photogrammetry analysis.

The aim of this study is to describe and compare head shape in surgically and conservatively treated patients using 3D photogrammetry. A retrospective review (2017-2020) of consecutive patients with isolated metopic synostosis based on 3D photogrammetry was conducted at the age of 4 years old. Images were aligned using a healthy age-matched template, and mean head shapes were reconstructed to evaluate shape development. A comparative sub-analysis based on phenotype was performed between patients that have been treated surgically and conservatively. 44 patients with isolated metopic synostosis were included: 22 received conservative treatment and 22 underwent fronto-orbital advancement. At 4 years of age the surgical group showed retrusion of the complete frontal area, while the conservative group showed a slight frontal prominence. Both groups showed temporal depression with respect to the control. In the sub-analysis, a similar degree of temporal depression was observed between surgical and conservative treatment. Head shape patterns showed considerable similarity across all severity phenotypes. This study shows a deviation in forehead shape from normal controls in patients with metopic synostosis following both surgical and conservative treatment by the age of 4 years. Comparison between surgical and conservative treatment shows a similar degree of temporal depression, a slight prominence in the center of the forehead in the conservative group, and retrusion of the entire frontal area in the surgical group. This observed difference is of considerable similarity across all severity types. III.

Arterial Vascularization of the Forehead in Aesthetic Dermatology Procedures: A Review.

Background: The growing popularity of aesthetic procedures on the face raises the question of their safety. The forehead region is crucial aesthetically, but due to its abundant vascularization, it is also one of the most dangerous areas for dermatologic procedures, especially in the glabella area. The purpose of this article is to review the literature on the arterial vascularization of the forehead to identify potential high-risk zones for aesthetic dermatology procedures. Methods: A database search (PubMed, Web of Science, Scopus, and Embase) was conducted, and the titles and abstracts of all identified studies were screened, followed by full-text evaluation. Results: We identified 714 articles during the database search, and 25 articles were included in the review. The included studies used cadaveric dissection and computed tomography applied to cadavers as well as Doppler ultrasonography on volunteers to evaluate the forehead arteries (supratrochlear (STrA), supraorbital (SOA), central (CA), paracentral artery (PCA), and frontal branch of superficial temporal artery(FBSTA)). A total of 1714 cases involving the forehead arteries were analyzed. The included arteries were observed over a relatively large area, and their locations varied. The CA and PCA in cadaver studies were observed in an area of 0.2 to 10.8 mm and 0.8 to 16.2 mm, respectively, on the entire path from the glabellar point to the frontal prominence point. The distances from the midline in cadaveric studies at various measurement points ranged from 0.6 to 28.0 mm for the superficial branch of the STrA and 13.6 to 40.7 mm for the deep branch of STrA. In case of SOA, the distance from the midline ranged from 23 to 32 mm. Measurements from the midline in Doppler studies ranged from 0 to 23 mm for STrA and from 10 to 50 mm for the SOA. In studies using computed tomography, STrA was observed at a distance of 11 to 21 mm and the SOA at a distance of 21 to 32 mm, both lateral to the midline. Conclusions: Medical professionals should be aware of zones where frontal arteries are more likely to be encountered. The glabella region appears to be one of the most dangerous areas for dermatologic procedures. It is believed that the supratrochlear, supraorbital, and the paracentral arteries may cause ophthalmic complications due to occlusion of the ophthalmic artery, while this risk for the frontal branch of the superficial temporal artery seems to be low but cannot be completely excluded.

Analysis of Cephalometric Differences of the Midface and Upper Face in Males and Females: A Radiographic Study.

Gender affirmation facial surgery (GAFS) is an important component in treating gender dysphoria among transgender individuals by addressing gender incongruence of the face. There is a paucity of literature describing objective characterizations of the anatomic differences between male and female faces. In this study, cephalometric measurements were taken on routine CT imaging performed on cisgender patients between 2017 and 2020. Specifically defined cephalometric landmarks of the upper and midface were measured and compared between male and female cohorts. Thirty-eight patients, 19 male and 19 female, were identified for this study. Significant differences were identified in the frontal prominence, orbital size, malar height, bizygomatic width, nose, and upper lip, with moderate rates of specificity for each gender. Some important ratios are also presented. Differences in the malar region and the orbit highlight the importance of these areas as a point of focus for GAFS. These cephalometric findings provide objective evidence and parameters for perceived anatomic differences in male and female faces. In addition, they help both corroborate current surgical techniques as well as guide future approaches to GAFS.

Thanatophoric Dysplasia: A Case Report and Literature Review

Thanatophoric dysplasia is a lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limbed dwarfism [1]. The child will present with a short neck, narrow chest, and prominent abdomen. Other anatomical features include a relatively enlarged head with frontal prominence, prominent eyes, hypertelorism, and a depressed nasal bridge. Diagnosis is typically established by ultrasound in the second trimester of pregnancy. In this study, we report a case of this rare entity, emphasizing its anatomical characteristics, anomalies, and clinical profile, along with a relevant literature review.

Considerations in Forehead Reduction for Men.

Although frontal prominence is an infrequent benign defect that causes no sequelae, it gives the patient distress due to its unaesthetic visual aspect. Proper surgical recontouring of the forehead can radically change one's appearance. In consequence, different techniques have been proposed for its management and correction. The aim of this study is to describe a surgical algorithm to treat male patients with forehead reduction to soften the "forceful" look. An observational cross-sectional study was conducted at the head and neck surgery ward of a general hospital between 2019 and 2022. We performed 35 forehead reduction operations on male patients. The median age was 29 years (range, 26-32 years). The forehead reduction procedures performed was categorized as follows: 27 anterior table osteotomy and 8 anterior table osteotomy contouring. Median forehead reduction was 2.7 mm (range, 2-3.2 mm). The average medical follow-up for patients was 6 months, with an interval ranging from 4 to 8 months. Surgery of the forehead in properly selected male patients is sufficiently safe that it can be done for entirely aesthetic reasons. The choice of surgical technique depends on the presence or absence of the pneumatized frontal sinus. If the frontal sinus is not pneumatized, an anterior table contouring is performed and if the frontal sinus is pneumatized, an anterior table osteotomy is preferred.

Schievitermesglobicornis, a new genus and species of Termitinae (Blattodea, Termitidae) from French Guiana.

Asymmetrical snapping mandibles have evolved several times in termites. In the Neotropics, asymmetrical snapping mandibles are found in soldiers of four genera: Neocapritermes, Planicapritermes, Cornicapritermes and Dihoplotermes. Here, I describe Schievitermesglobicornis, new genus and species, from French Guiana. This genus is characterized by an absence of a frontal prominence and slightly asymmetrical mandibles in the soldier caste. The morphology and anatomy of the worker reveal a wood-based diet, and suggest that Schievitermes, Planicapritermes and Neocapritermes constitute a monophyletic group, which is consistent with mtDNA data.

SAT-373 A Case of X Linked Hypophosphatemic Rickets Due to DE Novo Phex Gene Mutation

IntroductionRickets is a condition that can affect bones of infants and children. It is characterized by growth plate demineralization and can occur secondary to, most commonly, vitamin D deficiency or various problems with vitamin D, Calcium or Phosphate metabolism.Hypophosphatemic rickets (HR) is a type of rickets that is inherited by X linked dominant pattern mainly however it can be also inherited by autosomal dominant and recessive patterns in rare cases. X linked dominant type (XLH) affects about 1 in 20,000 newborns. Each of the other hereditary forms of HR has been identified in only a few families.Clinical features of XLH is similar to other types of rickets including metaphyseal widening, palpable rachitic rosaries, frontal prominence, malformation of the horizontal depression along the lower border of the chest, insufficient weight gain and leg bowing.Case presentation:A 10-month-old infant presented to endocrinology with vitamin D deficiency, low serum phosphorus and hyperparathyroidism. Physical examination showed macrocephaly with frontal bossing, widening of the wrists and rachitic rosaries. His lab results showed low 25 OH vitamin D (11 ng/ml) (N:20-50 ng/ml), low phosphorus (PO4) (3.3 mg/dl) (N:4-6.5 mg/dl), high PTH (113 pg/ml) (N: 20-65pg/ml), high alkaline phosphatase (ALP) (836 IU/L) (N: 135-518 IU/L) and normal calcium (Ca2+) (9.6 mg/dl) (N:9-11 mg/dl). Vitamin D treatment was started however his follow up lab results showed persistent hypophosphatemia for age (2.8mg/dl) and elevated ALP (600IU/l) despite normalization of vitamin D (38 ng/ml). Additional lab tests were done showing high PO4 excretion (19.5 mg/dl)(N:1:3.5 mg/dl), Ca/Cr ratio 0.005 (N <0.14), inappropriately normal FGF23 level (129 RU/ml) (N: >124 RU/mL). Genetic testing showed de novo mutation in PHEX gene (871C>T) which is consistent with XLH.PHEX gene mutation is the most common mutation associated with XLH. Normally this gene can directly or indirectly regulate a protein called fibroblast growth factor 23 (produced from FGF23 gene). This protein normally inhibits renal reabsorption of phosphate into the bloodstream. Gene mutations increase the production or reduce the breakdown of fibroblast growth factor 23 leading to an overactivation of this protein and reduction of phosphate reabsorption by the kidneys, resulting in hypophosphatemia.The patient was maintained on Burosomab (0.4 mg/kg biweekly); a recombinant human monoclonal antibody (IgG1) that binds to and inhibits the activity of fibroblast growth factor 23 (FGF23) and increases the phosphate reabsorption in the renal tubules.Conclusion:XLH due to PHEX gene mutation should be considered in rachitic children who have persistently low phosphate levels despite treating vitamin D deficiency.

Achondroplasia:A Case Report

Achondroplasia, most frequent form of dwarfism, is of special interest in the field of dentistry because of its craniofacial characteristics that includes relative macrocephaly, frontal prominence depressed nasal bridge, maxillary hypoplasia and dental malocclusion. The present paper reports a case of 30 years old male achondroplastic patient with review of the literature.

Crouzon’s syndrome: Case report and literature review

Crouzon’s syndrome is one of the hereditary syndromes of craniofacial dystosis. Patients with these syndromes may be presented to multiple specialties with various presentations such as misshapen head, ocular abnormalities, oro-maxillary defects or even with obstructive sleep apnea or difficulty in breathing due to facial deformities1,2. Here, we describe a female who was diagnosed as Crouzon’s syndrome in her 5th decade with classical anatomical malformations. She is a 42 year-old unmarried female presented with blurring of vision of left eye for 3 months duration. Her past medical history revealed that she was noticed to have prominent bulging of eyes since birth. When she presented to us, she has flatten occiput with frontal prominence, abnormal contour of head (brachycephaly) and shallow orbit with bilateral pseudoproptosis. She has no hand deformities such as syndactyly or polydactyl as seen with other hereditary craniofacial dystosis syndromes.

Three-dimensional surgical planning and simulation to improve surgical accuracy and reduce invasiveness of cranioplasties

Patients with too large a frontal prominence may suffer discomfort and subsequent self-esteem problems. The case of a 29-year-old male with a prominent forehead is presented. After three-dimensional (3D) virtual simulation of the procedure, a stereolithographic model of the skull and a surgical cutting guide were fabricated. The forehead recontouring and reconstruction procedure was performed under general anaesthesia and the postoperative course was uneventful. At the 12-month postoperative follow-up, clinical and radiographic documentation confirmed softening of the frontal prominence from 14.48mm to 8.56mm, a nasofrontal angle increase of 22°, and overall high patient satisfaction. The proposed workflow results in greater surgical precision, shorter reconstruction times, reduced patient morbidity due to a reduced risk of dural exposure and postoperative infection, and overall higher predictability and patient satisfaction.

Isolated Congenital Nasal Bifid Septum Separated by a Wide Layer of Soft Tissue.

Isolated Congenital Nasal Bifid Septum Separated by a Wide Layer of Soft Tissue.

General and Oral Aspects in Apert Syndrome: Report of a Case

Background: The present paper describes the general and oral manifestations in a 32-year-old man previously diagnosed with Apert syndrome. Clinical examination revealed features of acrocephalosyndactyly. The patient was found to have a flattened occiput with frontal prominence, abnormal contour of head (brachycephaly), shallow and downward slanting orbits with bilateral proptosis, hypertelorism, retruded midface, and prognathic mandible.Dental anormalies were present in a patient. Intraoral evaluation revealed normal mouth opening with anterior severe skeletal open bite and Byzantine-arch palate, maxillary alveolar ridges with crowding of maxillary and mandibular teeth, poor hygiene with heavy dental calculus and periodontal pseudopocket, dental caries, severe anterior open bite and crossbite, macroglosia and smooth tongue.

Hemimegalencephaly with microgyric – Agyric cortex

A 2-month-old male child with normal birth history developed bilateral asymmetric tonic spasms on day four of life. The spasms occurred multiple times in a day. The right frontal prominence was noted on the examination. The patient had no cutaneous marker or focal neurological deficit. The electroencephalograpy showed asymmetric diffuse abnormalities of background more marked on right side. The cranial computed tomography showed right sided hemi megalencephaly with enlarged ventricle and prominent occipital sign. The marked abnormalities of gyration noted along with hemimegalencephaly including anterior microgyric and posterior agyric cortex. The microgyric cortex was also noted on the contra-lateral side. The basal ganglion complex was poorly demarcated (Figs 1–4). Hemimegalencephaly is a congenital malformation of cortical development that consists of a unilater

3D Soft Tissue Imaging: An Accurate and Economical Approach

Research work regarding 3 dimensional (3D) soft tissue imaging is very scarce, the reason behind that is that 3D imaging modalities are either invasive, or expensive, or lack accuracy to a great extent. Aim of the study: To develop a new, accurate and economical method for 3D soft tissue image construction to aid in the assessment of facial esthetics. Materials and Methods: Ten adult females were comprised in the current study. For each subject, a 3D video model was constructed based on facial measurements taken after patient positioning using custom made patient positioning as- sembly. To check the reliability of this method certain measurements were compared between the patients' faces and the constructed 3D models. Results: Excellent agreement was found in all measurements except for the Inter-pupillary width and the Frontal prominence. Conclusions: The presented technique proved to be an accurate, reproducible and economic method for 3D model con- struction.

Prenatal diagnosis of a de novo 9p terminal chromosomal deletion in a fetus with major congenital anomalies

ObjectiveWe describe a prenatal ultrasonography diagnosis of omphalocele and symbrachydactyly in a fetus and review the literature on prenatal diagnosis of 9p terminal chromosomal deletions. Case reportA 31-year-old woman (gravida 3, para 1) was referred for genetic counseling because a fetal omphalocele had been detected. Prenatal ultrasonography at 17+ weeks of gestational age revealed a singleton female fetus with biometry equivalent to 18 weeks with an omphalocele. In addition, symbrachydactyly was also noted in the right arm; the wrist bones as well as the metacarpals were missing. A chromosomal study was arranged for a congenital anomaly involving omphalocele. We obtained Giemsa-banded chromosomes from fetal tissue cells, and an abnormal male karyotype with a terminal deletion of the short arm of chromosome 9 at band 9p13 was noted. After delivery, the fetus showed omphalocele, symbrachydactyly, trigonocephaly, sex reversal, a long philtrum, low-set ears, telecanthus, and a frontal prominence. ConclusionPrenatal diagnosis of abnormal ultrasound findings with omphalocele and symbrachydactyly should include the differential diagnosis of a chromosome 9p deletion.

6. SOTO’S syndrome: A unique cerebral gigantism

Soto’s syndrome is a rare genetic disorder caused by a mutation in the NSD1 gene. 95% are sporadic, the rest have Autosomal Dominance pattern of inheritance. In the Japanese population, genetic material is deleted from the region of chromosome 5, containing the NSD1 gene. The NSD1 gene provides instructions for making a protein that is involved in normal growth and development. Excessive physical growth during the first few years of life, macrocrania, mild mental retardation and unusual aggressiveness are the main features of the syndrome. The pathogenesis of this syndrome is not yet fully understood. A 41 year old right handed man was referred for behavioural disorder, eyelid flutter and headaches, and question of seizures. Patient was born full-time after prolonged labour, assisted with forceps. He had cardiac failure at 7 weeks of life, due to Wolff–Parkinson–White syndrome, was treated at SickKids. Tonsillectomy and Adenoidectomy was performed at 4 years, and Orchidectomy for testicular carcinoma at 18 years. Operation for Cholesteatoma was performed due to induced right hearing impairment at 36 years. The patient was diagnosed in early childhood with Soto’s syndrome with autistic spectrum disorder. Methods used to conclude the diagnoses included MRI studies, with EEG’s and Polysomnography. He had global developmental delay with cognitive impairment requiring special education. Patient has mildly dysmorphic features due to macrocrania with anti-mongoloid slant eyes. Diffuse hypotonia with symmetrical deep tendon reflexes, flexor plantars, and apraxic gait are also present. Aggressive behaviour is increasing as he ages. His MRI showed mild ventricular enlargement and sulcal enlargement with cerebellar tonsils of Arnold Chiari type I. The EEG had a generalised irregular spike wave paroxysm with a suggestion of a frontal prominence at 18 years, and then normalized with maturation. The Polysomnography showed a disordered sleep pattern with spontaneous arousals from slow-wave sleep and periodic limb movements. This case of Soto’s syndrome with typical phenotype and neuroimaging is unique for neurophysiologic studies, including several EEGs over four decades showing paroxysmal activity that resolved with cerebral maturation. Global developmental delay with cognitive impairment could be the result of ventricular and sulcal enlargement, and autistic spectrum disorder may be associated with this abnormality. Detailed studies of the mechanisms whereby NSD1 mutation produced the phenotype of cerebral gigantism remain to be analysed. The lack of clarity of how a reduced amount of protein from the NSD1 gene leads to Soto’s syndrome is perhaps one of the biggest questions. Maybe with more potential cases and genetic studies performed, we’ll be able to figure out the exact pathogenesis of the protein involved.

Metastatic Basal cell carcinoma accompanying gorlin syndrome.

Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification. Basal cell carcinoma is the most commonly skin tumor with slow clinical course and low metastatic potential. Its concomitance with Gorlin syndrome, resulting from a mutation in a tumor suppressor gene, may substantially change morbidity and mortality. A 66-year-old male patient with a history of recurrent basal cell carcinoma was presented with exophthalmus in the left eye and the lesions localized in the left lateral orbita and left zygomatic area. His physical examination revealed hearing loss, gapped teeth, highly arched palate, and frontal prominence. Left orbital mass, cystic masses at frontal and ethmoidal sinuses, and multiple pulmonary nodules were detected at CT scans. Basal cell carcinoma was diagnosed from biopsy of ethmoid sinus. Based on the clinical and typical radiological characteristics (falx cerebri calcification, bifid costa, and odontogenic cysts), the patient was diagnosed with metastatic skin basal cell carcinoma accompanied by Gorlin syndrome. Our case is a basal cell carcinoma with aggressive course accompanying a rarely seen syndrome.

Trisomy 21 and facial developmental instability

The most common live-born human aneuploidy is trisomy 21, which causes Down syndrome (DS). Dosage imbalance of genes on chromosome 21 (Hsa21) affects complex gene-regulatory interactions and alters development to produce a wide range of phenotypes, including characteristic facial dysmorphology. Little is known about how trisomy 21 alters craniofacial morphogenesis to create this characteristic appearance. Proponents of the "amplified developmental instability" hypothesis argue that trisomy 21 causes a generalized genetic imbalance that disrupts evolutionarily conserved developmental pathways by decreasing developmental homeostasis and precision throughout development. Based on this model, we test the hypothesis that DS faces exhibit increased developmental instability relative to euploid individuals. Developmental instability was assessed by a statistical analysis of fluctuating asymmetry. We compared the magnitude and patterns of fluctuating asymmetry among siblings using three-dimensional coordinate locations of 20 anatomic landmarks collected from facial surface reconstructions in four age-matched samples ranging from 4 to 12 years: (1) DS individuals (n = 55); (2) biological siblings of DS individuals (n = 55); 3) and 4) two samples of typically developing individuals (n = 55 for each sample), who are euploid siblings and age-matched to the DS individuals and their euploid siblings (samples 1 and 2). Identification in the DS sample of facial prominences exhibiting increased fluctuating asymmetry during facial morphogenesis provides evidence for increased developmental instability in DS faces. We found the highest developmental instability in facial structures derived from the mandibular prominence and lowest in facial regions derived from the frontal prominence.

Familial nonsyndromic craniosynostosis with specific deformity of the cranium

An otherwise healthy, developmentally normal 3-week-old male infant presented with complex multisuture craniosynostosis involving the metopic suture and bilateral coronal sutures with frontal prominence and hypotelorism. Frontal craniectomy and bilateral frontoorbital advancement remodeling were performed at the age of 5 months. The postoperative course was uneventful. The child's development was normal up to 8 months after the operation. His father and grandfather had similar specific deformities of the cranium, but no anomaly of the extremities was found, and conversation suggested that their intelligence was normal, excluding the possibility of syndromic craniosynostosis. A DNA analysis revealed large-scale copy number polymorphism of chromosome 4 in the patient and his family, which may include the phenotype of the cranium. Neither FGFR mutation nor absence of a TWIST1 mutation in the sequence from 291 to 1087, which includes DNA binding, Helix1, Loop, and Helix2, was identified. The patient apparently had a rare case of familial nonsyndromic craniosynostosis. The authors plan further genomic analysis of this family and long-term observation of the craniofacial deformity of this patient.

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): A misdiagnosed disease entity

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) was originally described in a large Swedish pedigree. Since then, 22 reports describing a total of 13 kindreds and 11 sporadic cases have been published. Inheritance is autosomal dominant, albeit the gene is unknown. Here we report on the clinical findings, genealogical data, brain MRI data, and autopsy/biopsy findings of four probands from three independently ascertained novel families from Norway, Germany and US.We identified a 39-year-old female and her twin sister, a 52-year-old male and a 47-year-old male with progressive neurological illness characterized by personality changes, cognitive decline and motor impairments, such as gait problems, bradykinesia, tremor and rigidity. Brain MRI showed white matter abnormalities with frontal prominence. Brain biopsy/autopsies were consistent with HDLS.HDLS is an under-recognized disease and in reporting these cases, we aim to increase the awareness of the disorder. Due to varied and wide phenotypic presentations, which may imitate several neurodegenerative diseases, HDLS can be difficult to diagnose. Definitive diagnosis can be established only by direct brain tissue examination. Familiarity with the clinical presentation and typical neuroimaging findings may be helpful in narrowing the diagnosis.