OBJECTIVE: To analyze the clinical phenotype and pathogenic mechanism of the ARSL gene variant in a fetus with nasal bone aplasia. METHODS: A 34-year-old pregnant woman who attended Quzhou Maternal and Child Health Care Hospital on January 3, 2023 was selected as the study subject. Whole exome sequencing (WES) was performed on the fetus. Bioinformatics analysis was carried out to identify and prioritize candidate gene variants, followed by Sanger sequencing for familial validation. A mutant plasmid expression vector was constructed and subsequently transfected into HEK293T cells to preliminarily investigate the pathogenetic mechanism of the identified variant. Additionally, a comprehensive review of literature was conducted to systematically summarize the associated clinical phenotypes. This study was approved by the Medical Ethics Committee of Quzhou Maternal and Child Health Care Hospital (Ethics No.: KY-2023-11). RESULTS: WES revealed that the fetus harbored a c.827del (p.L276Rfs*48) variant of the ARSL gene, for which its mother was heterozygous. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic(PVS1+PM2_Supporting). In vitro cellular function studies demonstrated that this variant can result in a substantial decrease in the expression of mutant mRNA, thereby preventing the production of normal ARSL protein. Clinical phenotypes resulting from ARSL gene variants exhibited considerable diversity, with nasal hypoplasia being the most common manifestation. CONCLUSION The c.827del (p.L276Rfs*48) variant of the ARSL gene can lead to degradation of mRNA via the nonsense-mediated mRNA decay pathway, resulting in reduced levels of ARSL protein. The pathogenetic mechanism underlying the ARSL gene variant may be associated with its haploinsufficiency effect.
Humans ; Female ; Pregnancy ; Adult ; Frameshift Mutation ; HEK293 Cells ; Nasal Bone/abnormalities* ; Fetus/abnormalities* ; Exome Sequencing

Fibrous dysplasia (FD) is a non-malignant bone tumor that typically behaves as a slow and indolent growing mass lesion. We report the case of a female patient presenting with headache and facial deformity and later diagnosed with polyostotic fibrous dysplasia (PFD). A 29-year-old woman visited Mealhada Primary Health Care Unit complaining of headache, nasal congestion, and hyposmia for several weeks. She also presented with facial deformity and painful swelling of the upper left orbit. X-ray imaging revealed a suspicious opacity in the left frontal sinus and a right shift of the nasal septum. Computed tomography and bone scintigraphy later confirmed a tumor involving the ethmoid and frontal bone. The patient was referred to the neurosurgery and otorhinolaryngology departments of a central hospital and the suspected diagnosis of PFD was confirmed. A watchful waiting approach with regular imaging screenings was proposed and accepted by the patient, who is now free of symptoms and more acceptant of the benign condition of her tumor. With this case, we aim to make family physicians more aware of this rare but relevant condition that can be difficult to diagnose. FD is a rare but benign tumor that occurs mainly in adolescents and young adults. Symptoms depend on the location and type of the tumor and include facial deformity, vision changes, nasal congestion, and headache. No clear guidelines exist for its treatment, and options include monitoring the progression of the tumor, in addition to medical or surgical approaches.
Adolescent ; Adult ; Bone Neoplasms ; Congenital Abnormalities ; Diagnosis ; Estrogens, Conjugated (USP) ; Female ; Fibrous Dysplasia of Bone ; Fibrous Dysplasia, Polyostotic* ; Frontal Bone ; Frontal Sinus ; Headache ; Humans ; Mass Screening ; Nasal Septum ; Neurosurgery ; Orbit ; Otolaryngology ; Physicians, Family ; Primary Health Care* ; Radionuclide Imaging ; Watchful Waiting ; Young Adult

OBJECTIVE: To assess the clinical application of single nucleotide polymorphism microarray (SNP array) in prenatal genetic diagnosis for fetuses with absent nasal bone. METHODS: Seventy four fetuses with absent nasal bone detected by prenatal ultrasound scanning were recruited from Women's Hospital, Zhejiang University School of Medicine during June 2015 and October 2018. The chromosome karyotypes analysis and SNP array were performed. The correlation between absent fetal nasal bone and chromosome copy number variants was analyzed. RESULTS: Among 74 fetuses, 19 were detected to have chromosomal abnormalities, including 16 cases of trisomy-21, 1 case of trisomy-18 and two cases of micro-deletion/duplication. Among 46 cases with isolated absence of nasal bone, 3 had trisomy-21, and 1 had a micro-duplication. Absence of nasal bone in association with nuchal translucency thickening had a higher rate of abnormal karyotypes compared with isolated absence of nasal bone (=32.27,<0.01). CONCLUSIONS Fetuses with absent nasal bone and nuchal translucency thickening are likely to have chromosome abnormalities, and SNP array testing is recommended to exclude the chromosome abnormalities.
Chromosome Aberrations ; Female ; Fetus ; Humans ; Nasal Bone ; abnormalities ; Oligonucleotide Array Sequence Analysis ; standards ; Polymorphism, Single Nucleotide ; genetics ; Pregnancy ; Pregnancy Trimester, First ; Prenatal Diagnosis ; methods

BACKGROUND: The number of surgical risks recalled by a patient after surgery can be used as a parameter for assessing how well the patient has understood the informed consent process. No study has investigated the usefulness of a self-developed mobile application in the traditional informed consent process in patients with a nasal bone fracture. This study aimed to investigate whether delivery of information, such as surgical risks, through a mobile application is more effective than delivery of information through only verbal means and a paper. METHODS: This prospective, randomized study included 60 patients with a nasal bone fracture. The experimental group (n=30) received preoperative explanation with the traditional informed consent process in addition to a mobile application, while the control group (n=30) received preoperative explanation with only the traditional informed consent process. Four weeks after surgery, the number of recalled surgical risks was compared for analysis. The following six surgical risks were explained: pain, bleeding, nasal deformity, numbness, nasal obstruction, and nasal cartilage necrosis. RESULTS: The mean number of recalled surgical risks among all patients was 1.58±0.56. The most frequently recalled surgical risk was nasal deformity in both groups. The mean number of recalled surgical risks was 1.72±0.52 in the experimental group and 1.49±0.57 in the control group. There was a significant association between mobile application use and the mean number of recalled surgical risks (p=0.047). Age, sex, and the level of education were not significantly associated with the mean number of recalled surgical risks. CONCLUSION: This study found that a mobile application could contribute to the efficient delivery of information during the informed consent process. With further improvement, it could be used in other plastic surgeries and other surgeries, and such an application can potentially be used for explaining risks as well as delivering other types of information.
Congenital Abnormalities ; Education ; Epistaxis ; Humans ; Hypesthesia ; Informed Consent ; Mobile Applications* ; Nasal Bone* ; Nasal Cartilages ; Nasal Obstruction ; Necrosis ; Plastics ; Prospective Studies

BACKGROUND: Nasal bone fracture is one of the most common facial bone fracture types, and the surgical results exert a strong influence on the facial contour and patient satisfaction. Preventing secondary deformity and restoring the original bone state are the major goals of surgeons managing nasal bone fracture patients. In this study, a treatment algorithm was established by applying the modified open reduction technique and postoperative care for several years. METHODS: This article is a retrospective chart review of 417 patients who had been received surgical treatment from 2014 to 2015. Using prepared questionnaires and visual analogue scale, several components (postoperative nasal contour; degree of pain; minor complications like dry mouth, sleep disturbance, swallowing difficulty, conversation difficulty, and headache; and degree of patient satisfaction) were evaluated. RESULTS: The average scores for the postoperative nasal contour given by three experts, and the degree of patient satisfaction, were within the “satisfied” (4) to “very satisfied” (5) range (4.5, 4.6, 4.5, and 4.2, respectively). The postoperative degree of pain was sufficiently low that the patients needed only the minimum dose of painkiller. The scores for the minor complications (dry mouth, sleep disturbance, swallowing difficulty, conversation difficulty, headache) were relatively low (36.4, 40.8, 65.2, 32.3, and 34 out of the maximum score of 100, respectively). CONCLUSION: Satisfactory results were obtained through the algorithm-oriented management of nasal bone fracture. The degree of postoperative pain and minor complications were considerably low, and the degree of satisfaction with the nasal contour was high.
Classification* ; Congenital Abnormalities ; Deglutition ; Facial Bones ; Headache ; Humans ; Mouth ; Nasal Bone* ; Pain, Postoperative ; Patient Satisfaction ; Postoperative Care ; Retrospective Studies ; Surgeons

Stafne bone cavity is a rare mandibular defect that was first reported by Edward C. Stafne in 1942. It commonly presents with a well-demarcated, asymptomatic, unilateral radiolucency that indicates lingual invagination of the cortical bone. A 52-year-old female patient who with nasal bone fracture, visited the hospital. During facial bone computed tomography (CT) for facial area evaluation, a well-shaped cystic lesion was accidentally detected on the right side of the mandible. Compared to the left side, no swelling or deformity was observed in the right side of the oral lesion, and no signs of deformity caused by mucosal inflammation. 3D CT scans, and mandible series x-rays were performed, which showed a well-ossified radiolucent oval lesion. Axial CT image revealed a cortical defect containing soft tissue lesion, which has similar density as the submandibular gland on the lingual surface of the mandible. The fact that Stafne cavity is completely surrounded by the bone is the evidence to support the hypothesis that embryonic salivary gland is entrapped by the bone. In most cases, Stafne bone cavity does not require surgical treatment. We believe that the mechanical pressure from the salivary gland could have caused the defect.
Bone Cysts ; Congenital Abnormalities ; Facial Bones ; Female ; Humans ; Inflammation ; Mandible* ; Middle Aged ; Nasal Bone ; Salivary Glands ; Submandibular Gland ; Tomography, X-Ray Computed

Fractures of frontal sinus account for 5%–12% of all fractures of facial skeleton. Inadequately treated frontal sinus injuries may result in malposition of sinus structures, as well as subsequent distortion of the overlying soft tissue. Such inappropriate treatment can result in aesthetic complaints (contour deformity) as well as medical complications (recurrent sinusitis, mucocele or mucopyocele, osteomyelitis of the frontal bone, meningitis, encephalitis, brain abscess or thrombosis of the cavernous sinus) with potentially fatal outcomes. Frontal contour deformity warrants surgical intervention. Although deformities should be corrected by the deficiency in tissue type, skin and soft tissue correction is considered better choice than bone surgery because of minimal invasiveness. Development of infection in the postoperative period requires all secondary operations to be delayed, pending the resolution of infectious symptoms. The anterior cranial fossa must be isolated from the nasal cavity to prevent infectious complications. Because most of the complications are related to infection, frontal sinus fractures require extensive surgical debridement and adequate restructuring of the anatomy. The authors suggest surgeons to be familiar with various methods of treatment available in the prevention and management of complications following frontal sinus fractures, which is helpful in making the proper decision for secondary frontal sinus fracture surgery.
Brain Abscess ; Congenital Abnormalities ; Cranial Fossa, Anterior ; Debridement ; Encephalitis ; Fatal Outcome ; Frontal Bone ; Frontal Sinus* ; Meningitis ; Mucocele ; Nasal Cavity ; Osteomyelitis ; Postoperative Period ; Reoperation ; Sinusitis ; Skeleton ; Skin ; Surgeons ; Thrombosis

BACKGROUND: Median cleft lip is a rare anomaly consisting of a midline vertical cleft through the upper lip. It can also involve the premaxillary bone, the nasal septum, and the central nervous system. In our current report, we present the clinical features of 6 patients with a median cleft lip and their surgical management according to the accompanying anomalies. METHODS: From December 2010 to January 2014, 6 patients with a median cleft lip were reviewed. Five of these cases underwent surgical correction; alveolar bone grafting was performed in a patient with a median alveolar cleft. The surgical technique included inverted-U excision of the upper lip and repair of the orbicularis oris muscle. The mean follow-up period was 20.4 months (range, 7.4-44.0 months). RESULTS: The study patients presented various anomalous features. Five patients received surgical correction, 4 with repair of the median cleft lip, and one with iliac bone grafting for median alveolar cleft. A patient with basal sphenoethmoidal meningocele was managed with transoral endoscopic surgery for repair of the meningocele. Successful surgical repair was achieved in all cases with no postoperative complications. CONCLUSIONS: Relatively mild forms of median cleft lip can be corrected with inverted-U excision with good aesthetic outcomes. In addition, there is a broad spectrum of clinical features and various anomalies, such as nasal deformity, alveolar cleft, and short upper frenulum, which require close evaluation. The timing of the operation should be decided considering the presence of other anomalies that can threaten patient survival.
Alveolar Bone Grafting ; Bone Transplantation ; Central Nervous System ; Cleft Lip* ; Congenital Abnormalities ; Follow-Up Studies ; Humans ; Lip ; Meningocele ; Nasal Septum ; Postoperative Complications

OBJECTIVE: To investigate the role of anatomical abnormalities in non-sinusitis-related rhinogenous headache and to evaluate effects of nasal endoscopic surgery for non-sinusitis-related rhinogenous headache. METHOD: Sixty-eight patients diagnosed as non-sinusitis-related rhinogenous headache were selected in this study. They were treated with nasal endoscopic surgery after failed long-term medical treatment. Data from this group were analyzed retrospectively. RESULT: Multiple anatomical abnormalities were noted by endoscopy and sinus computed tomographic scans in the 66 patients. These included nasal septum deviation in 46 cases (67.6%), middle turbinate gasfication in 20 cases (29.4%), protruding ethmoid bulla or uncinate processor in 10 cases (14.7%) and abnormal middle turbinate in 8 case (11.8%). Fifty-six (82.4%) patients showed significant improvement after surgery. CONCLUSION Non-sinusitis-related rhinogenous headache can be significantly minimized with individual nasal endoscopic surgery, as long as a precise identification of the etiologic anatomical factor can be made.
Endoscopy ; Ethmoid Bone ; abnormalities ; Ethmoid Sinus ; abnormalities ; Headache ; surgery ; Humans ; Nasal Septum ; abnormalities ; Nasal Surgical Procedures ; Retrospective Studies ; Sinusitis ; Turbinates ; abnormalities

Ultrasonography in obstetrics is increasingly used for the screening of chromosomal abnormalities as well as for prenatal diagnosis of congenital abnormalities with safety and technological advancements. In the first trimester, it is important to confirm normal intrauterine pregnancy with viability, detect the abnormalities of uterus and adnexa, determine the number of fetuses and assess chorionicity and amnionicity in case of multiple pregnancy. After establishment of gestational age accurately by crown-rump length, thickened fetal nuchal translucency, absence of nasal bone, tricuspid regurgitation, reverse a wave of ductus venosus and cystic hygroma can be markers for screening of chromosomal abnormalities. In addition, the scan also offers an opportunity to detect gross structural abnormalities, which could help improve the prognosis by early prenatal intervention. In the second trimester, aneuploidy (trisomy 21, 18, 13, Turner syndrome) and genetic syndromes could be detected by major structural defects and soft markers. It is important to consider that many malformations may not be detected prenatally even by qualified practitioners and appropriate equipment, and to counsel patients about the potential for false-positive or false-negative results.
Amnion ; Aneuploidy ; Chorion ; Chromosome Aberrations ; Congenital Abnormalities ; Crown-Rump Length ; Female ; Fetus ; Gestational Age ; Humans ; Lymphangioma, Cystic ; Mass Screening* ; Nasal Bone ; Nuchal Translucency Measurement ; Obstetrics ; Pregnancy Trimester, First ; Pregnancy Trimester, Second ; Pregnancy* ; Pregnancy, Multiple ; Prenatal Diagnosis ; Prognosis ; Tricuspid Valve Insufficiency ; Trisomy ; Ultrasonography* ; Ultrasonography, Prenatal ; Uterus