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Head and Neck Pathology Mar 2021Craniofacial development, one of the most complex sequences of developmental events in embryology, features a uniquely transient, pluripotent stem cell-like population... (Review)
Review
Craniofacial development, one of the most complex sequences of developmental events in embryology, features a uniquely transient, pluripotent stem cell-like population known as the neural crest (NC). Neural crest cells (NCCs) originate from the dorsal aspect of the neural tube and migrate along pre-determined routes into the developing branchial arches and frontonasal plate. The exceptional rates of proliferation and migration of NCCs enable their diverse contribution to a wide variety of craniofacial structures. Subsequent differentiation of these cells gives rise to cartilage, bones, and a number of mesenchymally-derived tissues. Deficiencies in any stage of differentiation can result in facial clefts and abnormalities associated with craniofacial syndromes. A small number of conserved signaling pathways are involved in controlling NC differentiation and craniofacial development. They are used in a reiterated fashion to help define precise temporospatial cell and tissue formation. Although many aspects of their cellular and molecular control have yet to be described, it is clear that together they form intricately integrated signaling networks required for spatial orientation and developmental stability and plasticity, which are hallmarks of craniofacial development. Mutations that affect the functions of these signaling pathways are often directly or indirectly identified in congenital syndromes. Clinical applications of NC-derived mesenchymal stem/progenitor cells, persistent into adulthood, hold great promise for tissue repair and regeneration. Realization of NCC potential for regenerative therapies motivates understanding of the intricacies of cell communication and differentiation that underlie the complexities of NC-derived tissues.
Topics: Animals; Cell Differentiation; Embryology; Embryonic Development; Face; Humans; Neural Crest; Skull
PubMed: 33723764
DOI: 10.1007/s12105-021-01301-z -
Aesthetic Plastic Surgery Feb 2018Patients often seek guidance from the aesthetic practitioners regarding treatments to enhance their 'beauty'. Is there a science behind the art of assessment and if so... (Review)
Review
BACKGROUND
Patients often seek guidance from the aesthetic practitioners regarding treatments to enhance their 'beauty'. Is there a science behind the art of assessment and if so is it measurable? Through the centuries, this question has challenged scholars, artists and surgeons.
AIMS AND OBJECTIVES
This study aims to undertake a review of the evidence behind quantitative facial measurements in assessing beauty to help the practitioner in everyday aesthetic practice.
METHODS
A Medline, Embase search for beauty, facial features and quantitative analysis was undertaken.
SELECTION CRITERIA
Inclusion criteria were studies on adults, and exclusions included studies undertaken for dental, cleft lip, oncology, burns or reconstructive surgeries. The abstracts and papers were appraised, and further studies excluded that were considered inappropriate. The data were extracted using a standardised table. The final dataset was appraised in accordance with the PRISMA checklist and Holland and Rees' critique tools.
RESULTS
Of the 1253 studies screened, 1139 were excluded from abstracts and a further 70 excluded from full text articles. The remaining 44 were assessed qualitatively and quantitatively. It became evident that the datasets were not comparable. Nevertheless, common themes were obvious, and these were summarised.
CONCLUSION
Despite measures of the beauty of individual components to the sum of all the parts, such as symmetry and the golden ratio, we are yet far from establishing what truly constitutes quantitative beauty. Perhaps beauty is truly in the 'eyes of the beholder' (and perhaps in the eyes of the subject too).
LEVEL OF EVIDENCE V
This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .
Topics: Adult; Anthropometry; Beauty; Esthetics; Evaluation Studies as Topic; Evidence-Based Medicine; Face; Facial Expression; Female; Humans; Surgery, Plastic; Visual Perception
PubMed: 29313062
DOI: 10.1007/s00266-017-1032-7 -
AMA Journal of Ethics Apr 2018Facial disfigurement can significantly affect personal identity and access to social roles. Although conventional reconstruction can have positive effects with respect... (Review)
Review
Facial disfigurement can significantly affect personal identity and access to social roles. Although conventional reconstruction can have positive effects with respect to identity, these procedures are often inadequate for more severe facial defects. In these cases, facial transplantation (FT) offers patients a viable reconstructive option. However, FT's effect on personal identity has been less well examined, and ethical questions remain regarding the psychosocial ramifications of the procedure. This article reviews the literature on the different roles of the face as well as psychological and social effects of facial disfigurement. The effects of facial reconstruction on personal identity are also reviewed with an emphasis on orthognathic, cleft, and head and neck surgery. Finally, FT is considered in this context, and future directions for research are explored.
Topics: Body Image; Esthetics; Ethics, Medical; Face; Facial Transplantation; Humans; Self Concept; Transplantation
PubMed: 29671724
DOI: 10.1001/journalofethics.2018.20.4.peer1-1804 -
Developmental Dynamics : An Official... Mar 2016Orofacial clefting is a common birth defect with significant morbidity. A panoply of candidate genes have been discovered through synergy of animal models and human... (Review)
Review
Orofacial clefting is a common birth defect with significant morbidity. A panoply of candidate genes have been discovered through synergy of animal models and human genetics. Among these, variants in interferon regulatory factor 6 (IRF6) cause syndromic orofacial clefting and contribute risk toward isolated cleft lip and palate (1/700 live births). Rare variants in IRF6 can lead to Van der Woude syndrome (1/35,000 live births) and popliteal pterygium syndrome (1/300,000 live births). Furthermore, IRF6 regulates GRHL3 and rare variants in this downstream target can also lead to Van der Woude syndrome. In addition, a common variant (rs642961) in the IRF6 locus is found in 30% of the world's population and contributes risk for isolated orofacial clefting. Biochemical studies revealed that rs642961 abrogates one of four AP-2alpha binding sites. Like IRF6 and GRHL3, rare variants in TFAP2A can also lead to syndromic orofacial clefting with lip pits (branchio-oculo-facial syndrome). The literature suggests that AP-2alpha, IRF6 and GRHL3 are part of a pathway that is essential for lip and palate development. In addition to updating the pathways, players and pursuits, this review will highlight some of the current questions in the study of orofacial clefting.
Topics: Abnormalities, Multiple; Cleft Lip; Cleft Palate; Cysts; DNA-Binding Proteins; Gene Regulatory Networks; Genetic Loci; Humans; Interferon Regulatory Factors; Lip; Transcription Factor AP-2; Transcription Factors
PubMed: 26332872
DOI: 10.1002/dvdy.24341 -
Orphanet Journal of Rare Diseases Sep 2010Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital... (Review)
Review
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and mental retardation. Up to now, 9 patients have been described, and most of the reported cases were not surviving the first days or months of age. The spectrum of defects occurring in ACFS is wide, and both interindividual variability and clinical differences among sibs have been reported. The diagnosis is based on clinical criteria, since the genetic mechanism underlying ACFS is still unknown. The differential diagnosis includes other disorders with ectrodactyly, and clefting conditions associated with genital anomalies and heart defects. An autosomal recessive pattern of inheritance has been suggested, based on parental consanguinity and disease's recurrence in sibs in some families. The more appropriate recurrence risk of transmitting the disease for the parents of an affected child seems to be up to one in four. Management of affected patients includes treatment of cardiac, respiratory, and feeding problems by neonatal pediatricians and other specialists. Prognosis of ACFS is poor.
Topics: Abnormalities, Multiple; Cleft Lip; Cleft Palate; Consanguinity; Face; Female; Foot Deformities, Congenital; Genitalia; Hand Deformities, Congenital; Heart Defects, Congenital; Humans; Infant, Newborn; Intellectual Disability; Male; Syndrome
PubMed: 20920258
DOI: 10.1186/1750-1172-5-25 -
Current Topics in Developmental Biology 2015Morphogenesis of the brain and face is intrinsically linked by a number of factors. These include: origins of tissues, adjacency allowing their physical interactions,... (Review)
Review
Morphogenesis of the brain and face is intrinsically linked by a number of factors. These include: origins of tissues, adjacency allowing their physical interactions, and molecular cross talk controlling growth. Neural crest cells that form the facial primordia originate on the dorsal neural tube. In the caudal pharyngeal arches, a Homeobox code regulates arch identity. In anterior regions, positional information is acquired locally. Second, the brain is a structural platform that influences positioning of the facial primordia, and brain growth influences the timing of primordia fusion. Third, the brain helps induce a signaling center, the frontonasal ectodermal zone, in the ectoderm, which participates in patterned growth of the upper jaw. Similarly, signals from neural crest cells regulate expression of fibroblast growth factor 8 in the anterior neural ridge, which controls growth of the anterior forebrain. Disruptions to these interactions have significant consequences for normal development of the craniofacial complex, leading to structural malformations and birth defects.
Topics: Animals; Brain; Ectoderm; Face; Gene Expression Regulation, Developmental; Humans; Models, Biological; Morphogenesis; Neural Crest; Signal Transduction
PubMed: 26589930
DOI: 10.1016/bs.ctdb.2015.09.001 -
The Cleft Palate-craniofacial Journal :... Apr 2019Longitudinal evaluation of asymmetry of the surgically managed unilateral cleft lip and palate (UCLP) to assess the impact of facial growth on facial appearance.
OBJECTIVE
Longitudinal evaluation of asymmetry of the surgically managed unilateral cleft lip and palate (UCLP) to assess the impact of facial growth on facial appearance.
DESIGN
Prospective study.
SETTING
Glasgow Dental Hospital and School, University of Glasgow, United Kingdom.
PATIENTS
Fifteen UCLP infants.
METHOD
The 3-D facial images were captured before surgery, 4 months after surgery, and at 4-year follow-up using stereophotogrammetry. A generic mesh which is a mathematical facial mask that consists of thousands of points (vertices) was conformed on the generated 3-D images. Using Procustean analysis, an average facial mesh was obtained for each age-group. A mirror image of each average mesh was mathematically obtained for the analysis of facial dysmorphology. Facial asymmetry was assessed by measuring the distances between the corresponding vertices of the original and the mirror copy of the conformed meshes, and this was displayed in color-coded map.
RESULTS
There was a clear improvement in the facial asymmetry following the primary repair of cleft lip. Residual asymmetry was detected around the nasolabial region. The nasolabial region was the most asymmetrical region of the face; the philtrum, columella, and the vermillion border of the upper lip showed the maximum asymmetry which was more than 5 mm. Facial growth accentuated the underlying facial asymmetry in 3 directions; the philtrum of the upper lip was deviated toward the scar tissue on the cleft side. The asymmetry of the nose was significantly worse at 4-year follow-up ( P < .05).
CONCLUSION
The residual asymmetry following the surgical repair of UCLP was more pronounced at 4 years following surgery. The conformed facial mesh provided a reliable and innovative tool for the comprehensive analysis of facial morphology in UCLP. The study highlights the need of refining the primary repair of the cleft and the potential necessity for further corrective surgery.
Topics: Cleft Lip; Cleft Palate; Facial Asymmetry; Humans; Imaging, Three-Dimensional; Infant; Nose; Prospective Studies; United Kingdom
PubMed: 29870280
DOI: 10.1177/1055665618780108 -
Stomatologija 2015Rhinoplasty for the cleft lip and palate patient is very challenging and surgical outcome of the nose is difficult to evaluate. Discussions of aesthetic evaluation of... (Review)
Review
INTRODUCTION
Rhinoplasty for the cleft lip and palate patient is very challenging and surgical outcome of the nose is difficult to evaluate. Discussions of aesthetic evaluation of the nose in cleft lip and palate patients remain problematical. Many different nose aesthetic evaluation methods have been described in the literature; they differ even among articles published in a single year.
AIM
To analyse the literature concerning aesthetic evaluation of the nose in cleft lip and palate patients and to identify the most objective method for such evaluation postoperatively.
MATERIAL AND METHODS
The literature was reviewed using MedLine and PubMed sources dated between January 1996 and December 2014. In total, 118 full text articles in English language were selected. Exclusion criteria were: case reports, surgical reviews, literature review, and single evaluations of nasal function.
RESULTS
Measurements were obtained from two-dimensional images in 73 articles. Noses were evaluated from 3D images in 22 and by clinical examination in 15. Other methods were evaluation from dental/facial casts, cephalometric evaluation, computer tomography and video recording. In 26 articles some combination of methods was used.
CONCLUSIONS
The most popular evaluation method is still two-dimensional photography and measurements using anthropometric facial landmarks. Measurements from three-dimensional images seem to be the most objective method and automated facial anthropometric landmark protraction seems to hold promise for the future.
Topics: Cleft Lip; Cleft Palate; Humans; Nose; Nose Diseases; Rhinoplasty
PubMed: 26879399
DOI: No ID Found -
Journal of Medical Genetics Oct 1993
Topics: Abnormalities, Multiple; Chromosome Deletion; Chromosomes, Human, Pair 22; Cleft Palate; DiGeorge Syndrome; Face; Heart Defects, Congenital; Humans; Syndrome; Velopharyngeal Insufficiency
PubMed: 8230153
DOI: 10.1136/jmg.30.10.801 -
Current Opinion in Genetics &... Jun 2015A segmental series of endoderm-derived pouch and ectoderm-derived cleft epithelia act as signaling centers in the developing face. Their precise morphogenesis is... (Review)
Review
A segmental series of endoderm-derived pouch and ectoderm-derived cleft epithelia act as signaling centers in the developing face. Their precise morphogenesis is therefore essential for proper patterning of the vertebrate head. Intercellular adhesion and polarity are highly dynamic within developing facial epithelial cells, with signaling from the adjacent mesenchyme controlling both epithelial character and directional migration. Endodermal and ectodermal epithelia fuse to form the primary mouth and gill slits, which involves basement membrane dissolution, cell intercalations, and apoptosis, as well as undergo further morphogenesis to generate the middle ear cavity and glands of the neck. Recent studies of facial epithelia are revealing both core programs of epithelial morphogenesis and insights into the coordinated assembly of the vertebrate head.
Topics: Animals; Cell Adhesion; Cell Movement; Cell Polarity; Epithelium; Face; Models, Biological; Morphogenesis; Signal Transduction; Species Specificity; Vertebrates
PubMed: 25748249
DOI: 10.1016/j.gde.2015.02.003