Upturned Nose Research Articles

Crash-perching on vertical poles with a hugging-wing robot

Perching with winged Unmanned Aerial Vehicles has often been solved by means of complex control or intricate appendages. Here, we present a method that relies on passive wing morphing for crash-landing on trees and other types of vertical poles. Inspired by the adaptability of animals’ and bats’ limbs in gripping and holding onto trees, we design dual-purpose wings that enable both aerial gliding and perching on poles. With an upturned nose design, the robot can passively reorient from horizontal flight to vertical upon a head-on crash with a pole, followed by hugging with its wings to perch. We characterize the performance of reorientation and perching in terms of impact speed and angle, pole material, and size. The robot robustly reorients at impact angles above 15° and speeds of 3 m ⋅ s−1 to 9 m ⋅ s−1, and can hold onto various pole types larger than 28% of its wingspan in diameter. We demonstrate crash-perching on tree trunks with an overall success rate of 73%. The method opens up new possibilities for the use of aerial robots in applications such as inspection, maintenance, and biodiversity conservation.

Features of Ugly but Capable Women of Ancient China.

The aim of this study was to analyze the appearance of women viewed as "ugly but capable" in ancient China. A Google search was conducted for the "Four Great Ugly Women." Information on 3 women was collected from Lienüzhuana, a collection of biographies of eminent women compiled by the Former Han period. With the addition of 1 (Huang Yueying), 7 "ugly but capable" women were analyzed. The manifestations of their ugliness in the texts were recorded. Among the 7 women, 5 exhibited physical manifestations, whereas the remaining 2 were simply described as "ugly" without specific characteristics. Among the discernible body characteristics of the 5 women deemed unattractive, the most common feature was dark skin (80%), followed by body shape (60%). Other frequently observed traits included sparse or yellow hair, an upturned or overly large nose, a convex forehead, and an unattractive neck (each at 40%), with the latter potentially exhibiting a protruding Adam's apple, a thick neck, or a neck mass. Less common features were sunken eyes, a large head, and a masculine skeleton, each occurring in 20% of cases. Based on the depiction of women considered unattractive, the authors can infer that dark skin, a fat body, a large or upturned nose, sparse hair, a protruding forehead, a thick neck, deep-set eyes, and a large head were elements associated with ugliness. Through the description of the ugly woman, authors can infer the standards of ugliness in ancient China.

Cornelia de Lange syndrome type 4 with a novel heterozygous missense variant in RAD 21 gene

Cornelia de Lange syndrome (CdLS) is a congenital multisystemic disorder characterized by genetic heterogeneity. It presents with features such as growth and cognitive retardation, upper limb deformities, cardiac, ophthalmologic, and genitourinary anomalies, alongside distinctive facial characteristics. The CdLS phenotype represents a spectrum that includes both classic and non-classic phenotypes resulting from pathogenic variants in genes associated with cohesin functioning, including NIBPL, SMC1A, SMC3, RAD21, BRD4, HDAC8, and ANKRD11. Mutations in these genes manifest diverse clinical features, with RAD21 variants accounting for a small percentage of cohesinopathies in humans. RAD21-related cohesinopathy typically exhibits growth retardation, minor skeletal anomalies, and facial features overlapping with CdLS. However, cognitive involvement tends to be milder. Despite this, due to the limited number of reported cases with RAD21 mutations, establishing genotype-phenotype correlations remain challenging. We present the case of an 18-month-old boy exhibiting developmental delay and distinct morphological features including micro-brachycephaly, depressed nasal bridge, upturned nose, long philtrum, low-set ears, mesomelic limb dwarfism, and a complete endocardial cushion defect. Exome sequencing revealed a novel RAD21 variant in this individual.

Orthodontic Treatment and Mini Wing Osteotomy: A Case Report of Changes in Facial Aesthetic

For correction of dentofacial deformities, orthosurgical treatment is recommended and often involves bi-maxillary orthognathic surgery. The chin area is an important key for a harmonious facial profile and plays an important role. The present case (of a 38- year-old female) describes one successful surgical-orthodontic treatment. The treatment consisted of the use of an Edgewise fixed appliance (0.022”×0.028”), mini Wing osteotomy (mWo), correction of the deviated nasal septum, and rhinoplasty. The treatment resulted in a better facial harmony and aesthetic with greater definition and lengthening of the submental region, adipose tissue elimination, and an upturned nose due to the correction of the deviated nasal septum associated with rhinoplasty. The Class I canine and molar relationship, the upper and lower midlines coincident with the facial midline, and the compensatory projection of the lower incisors were maintained. A satisfactory overbite and overjet, and leveled curve of Spee were obtained. In conclusion, the orthodontic treatment associated with mWo, correction of the deviated nasal septum, and rhinoplasty surgery provided satisfactory functional and aesthetic results.

Multinational study on profile preference of laypersons.

This study aimed to assess the facial profile preferences of lay people in seven locations from different countries and whether their place of residence, sex, age, race, education, or income influenced the decision. After altering the lip and nose in 1 mm increments in the sagittal and sagittal/vertical directions, 50 profile silhouettes with white-like facial features were rated by evaluators. The soft tissue values were integrated into the profiles, and profile preferences were identified for each location. An ANOVA with post hoc Tukey test was used to compare the differences in mean preference in each location. A multivariable regression model was used to assess the effect of the demographics of the evaluator on preference. Thirteen profiles were ultimately analyzed. The mean for profile preference was significantly different across locations (P< 0.0001). For evaluators in the United States and Lebanon, the most preferred profile had the original lip and original nose. In Switzerland and South Africa, retrusive lips, and a small and less upturned nose was most preferred. In Japan and Saudi Arabia, the most preferred profile had the original lip and a protrusive nose that was less upturned. A protrusive lip with a small, upturned nose was preferred in Turkey. Profile change (P< 0.0001), location (P< 0.0001), sex (P< 0.0001), and race (P=0.02) were significant confounders; in contrast, age, education, and income were not significant. Profile preference is different among the seven locations. For the most part, lay people prefer profiles within one SD from white norms. Also, an upturned nose is the least favored in most of the locations. Sex and race are also significant confounders. An orthodontic treatment plan decision is affected by an individual's preference for their facial appearance. This study helps clinicians understand how racial and regional differences may affect patients' preferences and, therefore, their expectations for orthodontic treatment results.

Prenatal Ultrasound Signs of Cornelia de Lange Syndrome in Monochorionic Twins: Case Study

Background. Cornelia de Lange syndrome is rare genetic disease manifested by short stature, limb abnormalities, craniofacial dysmorphies, and developmental delay. Syndrome prenatal detection is crucial during ultrasound diagnosis.Clinical case description. Growth delay of both children (body weight indicators were less than the 1st percentile) without any pathological changes in utero-fetoplacental perfusion (according to Doppler) was revealed during the ultrasound examination of monochorial twins in the II trimester of pregnancy. Hydramnious was noted. Fetal echocardiography has revealed transposition of main arteries in the first intrauterine child. Examination of fetus facial structures has shown nose bridge depression, upturned nose, elongated filter, and micrognathy. Second child has shown features of heterotypic abnormalities of upper limbs. One forearm bone was missing on the left side, presumably ulnar, the radial bone was shortened, and there was oligodactyly (only 2 fingers were visualized). There was no digitus annularis on the right hand, and there was clinodactyly of the fifth finger. Genetic testing was not performed due to the inaccessibility of this method in the country of residence and the financial limitations of the family to perform it elsewhere. Male twins were born prematurely on 35th week of pregnancy with weight of 1680 and 1640 (body weight indicators were less than the 5th percentile). Babies were consulted by the geneticist after birth, clinical diagnosis of Cornelia de Lange syndrome was established. The child with heart defect died on the 23rd day of his life, the second was discharged in satisfactory condition.Conclusion. Cornelia de Lange syndrome may manifest in monochorionic twins. The diagnosis of intrauterine growth delay in the II-III trimesters of pregnancy, without impaired uterofeto-placental perfusion, especially associated with hydramnious, requires searching for structural abnormalities and examination of facial dysmorphies specific for chromosomal or genetic diseases.

EP455: Fetal ultrasound presentation and neonatal diagnosis of Freeman-Sheldon syndrome in son of previously undiagnosed adult male

eP455: Fetal ultrasound presentation and neonatal diagnosis of Freeman-Sheldon syndrome in son of previously undiagnosed adult male

Spontaneous Partial Regression of Bilateral Grade III Corneal Dermoids Associated With Fetal Valproate Spectrum Disorder

The purpose of this study was to describe a rare case of a child with bilateral central corneal dermoids (grade III) in association with fetal valproate spectrum disorder (FVSD) and to report the spontaneous regression of these tumors. Clinical records of a 14-month-old child whose mother took sodium valproate all along her pregnancy were retrospectively reviewed. The diagnosis of FVSD was made based on phenotypic features and associated congenital malformations. Facial features included trigonocephaly, flat nose bridge and small upturned nose, cleft palate and lip, and micrognathia. Systemic anomalies included bilateral radial defects and club hands, pes equinovarus, hypospadias, secundum atrial septal defect, patent ductus arteriosus, and aortic insufficiency. Cytogenetic studies were normal. Ocular findings included bilateral central corneal dermoids sparing the limbus and peripheral cornea, bilateral aphakia, absence of left anterior chamber, and bilateral mass-like vitreal opacities. A computed tomography scan suggested minimal left microphthalmia. Owing to the high-risk category for general anesthesia and prioritization of other severe systemic anomalies, no ocular surgical intervention was performed. Over 5 years of follow-up, spontaneous partial regression of the corneal tumors was observed. The development of bilateral grade III corneal dermoids in a child with FVSD may be more than fortuitous and enlarges the list of ocular anomalies associated with FVSD. Corneal dermoids may regress spontaneously.

Rhizomelic limb shortness and abnormal facies: short stature syndrome sharing some manifestations with robinow syndrome

In children, short stature and disproportionate skeletal growth are associated with many syndromes and these syndromes have characteristic radiological changes which help in their diagnosis. However, many of them have no well-defined diagnostic criteria, and thus overlap between apparently distinct syndromes is common. Here, we report a child with characteristic features seen distinct from any other dwarfing syndrome known to us with some of the features similar to Robinow syndrome. Newborn had a broad and prominent forehead, mid-face hypoplasia, hypertelorism, flat nasal bridge, upturned nose, elongated philtrum, protruding tongue, single crease in the left hand, widely spaced nipple, brachydactyly in lower limbs, and disproportionately short rhizomelic upper and lower limbs. Based on these features, a diagnosis of Robinow syndrome was made. The case was the first of his kind admitted to our institute. The diagnosis was made clinically after follow-up.

Why COVID-19 Human Challenge Trial Protocol is Provocative and Controversial?

Introduction: Robinow syndrome is a rare inherited disorder. It was described by Robinow in 1969 as a syndrome of characteristic facies, micropenis, cryptorchidism in the male and mesomelic limb shortening1. The characteristic facial appearences (foetal face) are frontal bossing, macrocephaly, hypertelorism, wide palpebral fissures with downward slanting, short upturned broad nose with anteverted nares, hyperplastic alveolar ridges, long philtrum, small chin and triangular mouth with downward angles. In addition, hypoplastic genitalia, nevus ...

Understanding the Use of Polycaprolactone in East Asian Structural Rhinoplasty: Questions and Answers

Surgery as an art in rhinoplasty involves grafting techniques wherein materials (usually autologous) are taken from the septum and supplemented by conchal cartilage. However, not all noses have adequate cartilage material. The quest for materials as possible replacement for human tissue have led to invention of synthetic (e.g. silicone, e-PTFE, porous polyethelene) and non-synthetic products (e.g. processed homograft and xenograft). In this era of advanced medical science, tissue engineering has started the use polycaprolactone (PCL) as a template and scaffold for tissue growth. Because of this characteristic feature, PCL as a mesh has a significant role in structural rhinoplasty.&#x0D; &#x0D; What is structural rhinoplasty?&#x0D; The surgical goal of rhinoplasty is to achieve functional improvement in breathing and aesthetic overall look, most notably the tip. The tip is determined by the final shape of the lower cartilage in its proper location - - but since the lower cartilage is a floating structure supported only by fibrous tissue and ligaments, there is a high incidence of tip drooping post op. So, the idea of structured rhinoplasty was conceptualized in 1997 by Dr. Byrd and popularized by Dr. Toriumi.1,2 A piece of central septum is harvested and fashioned as an extension of the caudal margin of the septum. This is called a septal extension graft (SEG) and the lower cartilage is sutured to the caudal margin of the SEG for better control of the tip. Since then, the technique has been the main workhorse support graft for the tip.3 (Figure 1)&#x0D; &#x0D; Why is structural rhinoplasty needed in East Asian noses?&#x0D; East Asian noses, particularly Southeast Asian noses are usually short and small, with low dorsum and upturned bulbous nose. Tremendous strength in the design of the structural support with its foundation base at the caudal septum should be achieved in order to elongate the nose, counter rotate and project the tip. (Figure 2) This is made possible by using the central harvested cartilage as a SEG attached to the residual strong dorsal and caudal strut.4 (Figure 3)

Automatic Facial Recognition of Williams-Beuren Syndrome Based on Deep Convolutional Neural Networks.

Background: Williams-Beuren syndrome (WBS) is a rare genetic syndrome with a characteristic “elfin” facial gestalt. The “elfin” facial characteristics include a broad forehead, periorbital puffiness, flat nasal bridge, short upturned nose, wide mouth, thick lips, and pointed chin. Recently, deep convolutional neural networks (CNNs) have been successfully applied to facial recognition for diagnosing genetic syndromes. However, there is little research on WBS facial recognition using deep CNNs.Objective: The purpose of this study was to construct an automatic facial recognition model for WBS diagnosis based on deep CNNs.Methods: The study enrolled 104 WBS children, 91 cases with other genetic syndromes, and 145 healthy children. The photo dataset used only one frontal facial photo from each participant. Five face recognition frameworks for WBS were constructed by adopting the VGG-16, VGG-19, ResNet-18, ResNet-34, and MobileNet-V2 architectures, respectively. ImageNet transfer learning was used to avoid over-fitting. The classification performance of the facial recognition models was assessed by five-fold cross validation, and comparison with human experts was performed.Results: The five face recognition frameworks for WBS were constructed. The VGG-19 model achieved the best performance. The accuracy, precision, recall, F1 score, and area under curve (AUC) of the VGG-19 model were 92.7 ± 1.3%, 94.0 ± 5.6%, 81.7 ± 3.6%, 87.2 ± 2.0%, and 89.6 ± 1.3%, respectively. The highest accuracy, precision, recall, F1 score, and AUC of human experts were 82.1, 65.9, 85.6, 74.5, and 83.0%, respectively. The AUCs of each human expert were inferior to the AUCs of the VGG-16 (88.6 ± 3.5%), VGG-19 (89.6 ± 1.3%), ResNet-18 (83.6 ± 8.2%), and ResNet-34 (86.3 ± 4.9%) models.Conclusions: This study highlighted the possibility of using deep CNNs for diagnosing WBS in clinical practice. The facial recognition framework based on VGG-19 could play a prominent role in WBS diagnosis. Transfer learning technology can help to construct facial recognition models of genetic syndromes with small-scale datasets.

Wolfenbüttel

Wolfenbüttel

Relationship of Nasal Morphology With Different Dentoskeletal Patterns: A Systematic Review

Introduction: The nose is considered by some clinicians as the keystone of facial aesthetics. A treatment plan can be customized to intensify the facial aesthetics of a patient through careful evaluation of the soft tissue drape. Hence, for getting a better outcome of the treatment plan, orthodontists are supposed to have in-depth knowledge and awareness of soft tissue changes, taking into notice the ethnic and racial variation in discrete cohorts. The objective of this study is to enlist the relationship of nasal morphology with different dentoskeletal (sagittal and vertical) patterns. Materials and Methods: A comprehensive electronic database search was performed till July 2020, of Cochrane Library, Embase, PubMed, Scopus, Google Scholar, Web of Science, Wiley Online Library, and ScienceDirect. Only articles published in the English language were included. After excluding all the irrelevant data through careful screening, a total of 15 articles were selected which discussed the nose–dentoskeletal pattern relation. Results and Conclusion: The nose is found to be convex in skeletal class II, straight in class I, and concave in class III. Those with increased vertical growth may have an increased tendency of a convex nasal dorsum. Maxillary and mandibular jaw length affect the nasal parameters more than the jaw position. Nasal length and nasal depth increase with the jaw length and mandibular and maxillary/palatal-plane inclination to the cranium. A long nose with increased nasal depth is expected in long faces and those with long upper and lower jaws. An upturned nose is found with an anticlockwise-rotated maxilla.

A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family

BackgroundCopy number variants (CNVs) associated with developmental delay and intellectual disability (DD/ID) continue to be identified in patients. This article reports identification of a chromosome 1q22 microdeletion as the genetic cause in a Chinese family affected by ID.Case presentationThe proband was a 19-year-old pregnant woman referred for genetic counseling and prenatal diagnosis at 18 weeks of gestation. She had severe ID with basically normal stature (height 154 cm [0 SD], weight 61 kg [− 0.2 SD], and head circumference 54 cm [− 1.12 SD]). Her distinctive facial features included a prominent forehead; flat face; flat nasal bridge and a short upturned nose; thin lips; and small ears. The proband’s father was reported to have low intelligence, whereas her mother was of normal intelligence but with scoliosis. Chromosome microarray analysis (CMA) reveals that the proband, her father and the fetus all carry a 1q22 microdeletion of 936.3 Kb (arr[GRCh37] 1q22 (155016052_155952375)×1), which was not observed in her mother and paternal grandparents and uncles, suggesting a de novo mutation in the proband’s father. The microdeletion involves 24 OMIM genes including ASH1L (also known as KMT2H and encoding a histone lysine methyltransferase). Of note, haploinsufficiency of ASH1L has been shown to be associated with neurodevelopmental disorders. Based on the inheritance of the detected CNV in the pedigree and similar CNVs associated with ID in public databases (Decipher, DGV and ClinVar) and literature, the detected CNV is considered as pathogenic. The family chose to terminate the pregnancy.ConclusionsThe identified 1q22 microdeletion including ASH1L is pathogenic and associated with ID. This case broadens the spectrum of ID-related CNVs and may be useful as a reference for clinicians.

Congenital nephrotic syndrome associated with 22q11.2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286 + 5G > A mutation

BackgroundCongenital nephrotic syndrome (CNS), which is defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia and edema, is most caused by monogenic defects in structural proteins of the glomerular filtration barrier in the kidneys. 22q11.2 duplication syndrome was a chromosomal disease with variable clinical featuresranging from normal to mental retardation and with congenital defects. Co-occurrence of two genetic disorders in a single patient is rare.Case presentationThe proband was born at 36 weeks of gestational age spontaneously and weighed 2350 g at birth. Six days after birth, the proband was admitted to our hospital due to fever of 38.5 °C lasting for 6 h. Physical examination at admission time showed dysmorphic features of hypertelorism, palpebral edema, broad nose bridge, upturned nose, dysmorphic auricle, long philtrum, and a thin upper lip. Additionally, we found left wrist drop and bilateral strephexopodia, bilateral knee joint flexion contracture in this patient. A series of indicators were detected and showed abnormalities. Albumin was used to remit the hypoproteinemia and edema. However, the parents refused to accept further therapy and the boy died at age 3 months due to cachexy. To confirm the pathogenesis, genetic analysis were performed and revealed two mutations of NPHS1 gene: Exon18: c.2386G > C; p. (Gly796Arg) inherited from mother, and intron24: c.3286 + 5G > A; p.? inherited from father. And he also had a 22q11.2 duplication which was inherited from his mild affected mother. The pathogenesis of the intronic mutation has been further identified that it can defect alternative splicing of NPHS1.ConclusionsWe present a patient who was caught in congenital nephrotic syndrome and 22q11.2 duplication syndrome simultaneously, emphasizing the importance of new sequencing technology on diagnosis of different genetic disorders.

Oral findings in Robinow Syndrome: a case report in pediatric patient

Objective: The aim of this article was to describe a case of Robinow syndrome in a pediatric patient. Case Report: Clinically, the patient had frontal bossing, flat facial profile with macrocephaly, midfacial hypoplasia, hypertelorism, wide palpebral fissures, triangular mouth, short upturned nose, short philtrum, ankyloglossia, prolonged retention of primary teeth and abnormal aligment of teeth. The radiographic exams indicated the presence of three impacted permanent supernumerary teeth, agenesis of eight permanent teeth and dentalroot shortening of all permanent teeth. The treatment proposed was the extraction of all retained primary teeth and the supernumerary teeth, dietary and oral hygiene instructions and orthodontic treatment. Also, important aspects to avoid complications associated with Robinow syndrome were discussed. Conclusion: This case describes uncommon oral findings and some important aspects to avoid complications associated with the Robinow syndrome. Early professional advice, treatment, and periodical follow-ups can improve the quality of life of these patients.

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

SMARCC2 (BAF170) is one of the invariable core subunits of the ATP-dependent chromatin remodeling BAF (BRG1-associated factor) complex and plays a crucial role in embryogenesis and corticogenesis. Pathogenic variants in genes encoding other components of the BAF complex have been associated with intellectual disability syndromes. Despite its significant biological role, variants in SMARCC2 have not been directly associated with human disease previously. Using whole-exome sequencing and a web-based gene-matching program, we identified 15 individuals with variable degrees of neurodevelopmental delay and growth retardation harboring one of 13 heterozygous variants in SMARCC2, most of them novel and proven de novo. The clinical presentation overlaps with intellectual disability syndromes associated with other BAF subunits, such as Coffin-Siris and Nicolaides-Baraitser syndromes and includes prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as hypertrichosis, thick eyebrows, thin upper lip vermilion, and upturned nose. Nine out of the fifteen individuals harbor variants in the highly conserved SMARCC2 DNA-interacting domains (SANT and SWIRM) and present with a more severe phenotype. Two of these individuals present cardiac abnormalities. Transcriptomic analysis of fibroblasts from affected individuals highlights a group of differentially expressed genes with possible roles in regulation of neuronal development and function, namely H19, SCRG1, RELN, and CACNB4. Our findings suggest a novel SMARCC2-related syndrome that overlaps with neurodevelopmental disorders associated with variants in BAF-complex subunits.

Prenatal diagnosis of Apert syndrome

Apert syndrome is a rare monogenic autosomal dominant disorder characterized by severe craniosynostosis, hypoplastic mediofacial structures and symmetric syndactyly of the upper and lower limbs. De novo case with Apert synclrome fetus was detected prenatally at 19–20 weeks of gestation when echography showed next pathognomic signs: an abnormal skull shape, frontal bossing, mild pachygyria, severe hypertelorism bilateral exophthalmos, deep nasal bridge, short upturned nose, prognathia, long filtrum, mild microgenia and ful syndactyly of the feet and hands. Differential diagnosis with other acrocephalosyndactyly types was performed. It is considered, that this is the earliest term of this syndrom prenatal diagnosis in a low risk pregnancies with unimpaired family history. By the parents desire this pregnancy was terminated and subsequent autopsy confirmed the diagnosis of Apert syndrome (acrocephalosyndactyly — type I) one of the hands looks like mitten the other one has the bucket shape.

21-week pregnancy with trisomy 18 (Edwards syndrome) − bone malformations highlighted

Edwards syndrome, also known as Trisomy 18 (T18) or Trisomy E, is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. Some physical malformations associated with Edwards syndrome include small head (microcephaly) accompanied by a prominent back portion of the head (occiput); low-set, malformed ears; abnormally small jaw (micrognathia); cleft lip/cleft palate; upturned nose; narrow eyelid folds (palpebral fissures); widely spaced eyes (ocular hypertelorism); drooping of the upper eyelids (ptosis); a short breast bone; clenched hands; choroid plexus cysts; underdeveloped thumbs and or nails, absent radius, webbing of the second and third toes; clubfoot; and in males, undescended testicles. The diagnosis of Trisomy 18 is by ultrasound and amniocentesis, the fetal DNA being examined for genetic abnormalities. Therapeutic abortion can be done.