DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.

PURPOSE: DISP1 encodes a transmembrane protein that regulates the secretion of the morphogen, Sonic hedgehog, a deficiency of which is a major cause of holoprosencephaly (HPE). This disorder covers a spectrum of brain and midline craniofacial malformations. The objective of the present study was to better delineate the clinical phenotypes associated with division transporter dispatched-1 (DISP1) variants. METHODS: This study was based on the identification of at least 1 pathogenic variant of the DISP1 gene in individuals for whom detailed clinical data were available. RESULTS: A total of 23 DISP1 variants were identified in heterozygous, compound heterozygous or homozygous states in 25 individuals with midline craniofacial defects. Most cases were minor forms of HPE, with craniofacial features such as orofacial cleft, solitary median maxillary central incisor, and congenital nasal pyriform aperture stenosis. These individuals had either monoallelic loss-of-function variants or biallelic missense variants in DISP1. In individuals with severe HPE, the DISP1 variants were commonly found associated with a variant in another HPE-linked gene (ie, oligogenic inheritance). CONCLUSION: The genetic findings we have acquired demonstrate a significant involvement of DISP1 variants in the phenotypic spectrum of midline defects. This underlines its importance as a crucial element in the efficient secretion of Sonic hedgehog. We also demonstrated that the very rare solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combination is part of the DISP1-related phenotype. The present study highlights the clinical risks to be flagged up during genetic counseling after the discovery of a pathogenic DISP1 variant.

The utility of balloon dilation for piriform aperture stenosis - A first line surgical treatment.

AIM: Describe the long-term outcomes of patients with piriform aperture stenosis managed with balloon dilation. METHODS: Review of current literature. A retrospective case series of 6 patients with piriform aperture stenosis initially managed with balloon dilation at a tertiary paediatric hospital. RESULTS: Six neonates diagnosed with piriform aperture were managed with balloon dilation under general anaesthesia after failing conservative treatment. Average age at first dilation was 28 days old (range 6-54). The piriform aperture was an average width of 5.15 mm, with a 4-6.5 mm range, as measured on axial CT scan. The average width at 25% of the nasal cavity, 50% and 75% was 7.7 mm, 9.3 mm and 9.98 mm respectively. Four neonates required only a single balloon dilation - two of these were stented post-operatively. The remaining two neonates required multiple balloon dilations with eventual drill-out through a sublabial approach. There was a trend of smaller piriform and nasal cavity diameters in those who required multiple procedures. The mean follow-up was 30 months. CONCLUSION: Balloon dilation should be considered for primary operative management in neonates with piriform aperture stenosis who fail medical interventions. Balloon dilation can treat the narrowing at and beyond the piriform aperture. Patients who require more than one dilation are more likely to have a smaller piriform aperture and may need a drill-out procedure. The impact of nasal stents on outcomes is unclear.

[Piriform aperture as a cause of nasal obstruction. Part 2. A systematic review of the methods of surgical treatment]. / Grushevidnaya apertura kak prichina nazal'noi obstruktsii. Chast' 2. Sistematicheskii obzor sposobov khirurgicheskogo lecheniya.

The article presents a systematic review of publications on the methods of piriform aperture (PA) surgery in the treatment of nasal obstruction. Various surgical techniques are reviewed critically in terms of topographic anatomy and the effectiveness of the method. The contradictory opinions about the access to the piriform aperture and the methods of its correction are revealed. The topic of surgery of the PA as an area of the internal nasal valve in the treatment of nasal obstruction is equally interesting for ENT and plastic surgeons. The analysis of the literature showed the effectiveness and safety of operations to expand the PA. None of the authors in the studied works notes any changes in the appearance of the nose during observation in the postoperative period. The biggest challenge in understanding PA surgery, which has yet to be understood, is determining the indications for a particular method of surgery, which justifies the continuation of the search, taking into account the clinical features of the patient and the topographic level of the disorder. In the future, we need studies with objective measurements, control and long-term careful observation to better study the effect of the expansion of the piriform aperture on the relief of nasal obstruction.

[Piriform aperture as a cause of nasal obstruction. Part I. Anthropometric characteristics in different populations (systematic review).] / Grushevidnaya apertura kak prichina nazal'noi obstruktsii. Chast' I. Antropometricheskaya kharakteristika v razlichnykh populyatsiyakh.

The piriform aperture (PA) is anatomically an opening in the central part of the facial skull. To date, the piriform aperture, as an element of the static component of the internal nasal valve (INV) and as a possible cause of its dysfunction, has not received proper surgical attention. If PA is considered as a possible cause of nasal obstruction, then the main parameter is its width, which has a direct effect on the volume of the INV area. This parameter is the focus of the presented work. Despite the absence of generally accepted normative indicators for PA, we currently know the shape and size of the piriform aperture in different ethnic groups of the population, described in the article. As a result of the analysis of the presented research results, it was revealed that the width of the PA is influenced by the gender, age and ethnicity of the individual. The anthropometric data of the piriform aperture require further study, since they are of important reference value not only in the theory of medical research, but also in practical otorhinolaryngology, maxillofacial and plastic surgery, pulmonology.

Re-thinking congenital piriform aperture stenosis: Modern imaging demonstrates narrowing of the full nasal cavity length.

OBJECTIVE: Measure the width of the nasal cavity in cases of piriform aperture stenosis using computerised tomography scans. METHODS: Retrospective study performed at a paediatric tertiary referral centre in Australia. Comparison nasal cavity widths (measured on computerised tomography scans in the axial plane) at the piriform aperture, choana and points 25, 50 and 75% along the length of nasal cavity, between cases with piriform aperture stenosis and controls. RESULTS: In cases of piriform aperture stenosis the piriform aperture along with the nasal cavity is statistically significantly narrower than controls, measured at 25, 50 and 75% along the distance between the piriform aperture and the choana. CONCLUSION: This modern imaging review has illustrated the need for a change in the treatment paradigm for neonates with this condition, suggesting the need for further investigation of techniques that treat narrowing beyond the aperture.

Defining the limits and indications of the Draf III endoscopic approach to the lateral frontal sinus and maximizing visualization and maneuverability: a cadaveric and radiological study.

PURPOSE: The DRAF III procedure has been used for access to the lateralmost part of the frontal sinus. We sought to identify anatomical and radiological measurements as well as modifications that predict the lateral limits of visualization and surgical access after this procedure. METHODS: Seven cadaver heads were imaged with computed tomography scan. The distance from midline to the medial orbital wall (MOWD), midline to the lateral end of the frontal sinus (MLD), the sum of MLDs (SMLD), interorbital distance (IOD) and the shortest anteroposterior distance of the frontal recess (APD) were utilized. The ratios MLD/MOWD, and SMLD/IOD were calculated. The same distances were measured on 41 CT scans. Orbital transposition (OT) and partial resection of the piriform aperture (PAR) were performed; the visualization and reach were assessed. The angle of insertion was measured before and after the modifications. RESULTS: Only the ratio MLD/MOWD was consistently predictive of access to the lateral, superior and posterior wall of the frontal sinus. Following the modifications, a visualization of 100% laterally was achieved with the 30- and 45 degree endoscopes and every lateral recess could be reached with the 70 degree suction. A mean increase of the angle of insertion of 25.3 and 59.6% was recorded after OT and PAR, respectively. CONCLUSIONS: IOD rather than APD defines the limits of the Draf III approach to the lateral frontal sinus and MLD/MOWD ratio can serve as a useful preoperative tool. Along to the already described OT, PAR increases visualization and reach of the lateral frontal sinus.

Congenital nasal piriform aperture atresia: A case report and novel finding.

Congenital nasal piriform aperture stenosis and choanal atresia are types of nasal obstructions that can be life threatening to infants if left untreated. While there has been numerous reports on both of them there has not been a single reported case of congenital nasal piriform aperture atresia. Here, we present the first case of piriform aperture atresia that includes the diagnostic and clinical approach.

The determination of the piriform aperture morphometry and golden ratio in healthy Turkish subjects: a CT study / Determinación de la morfometría de la apertura piriforme y la proporción áurea en sujetos turcos sanos: un estudio con TC

This study was undertaken to determine the morphometry of the piriform aperture width and height in Turkish population aged between 18-60 years. It was a retrospective study in which 200 subjects were included 106 males and 94 females, ranging from 18 up to 60 years. Subjects having brain CT in the Radiology Department. Statistical analysis were evaluated with SPSS 21.00 programme. ANOVA Test were used to determine the significance between measurements and age group. The p<0.05 value was considered as significant. The groups were divided into four groups according to age. The overall means and standard deviations of the measurements were: piriform aperture height, 45.19±2.91 mm; piriform aperture width, 24.98±2.85 mm; the golden ratio, 1.84±0.19 in males, respectively whereas, the same measurements were 42.84±2.88; 23.46±2.15 mm; 1.83±0.19 in females, respectively. Also there were an increase in piriform aperture width measurement as the age increased. These anatomical values provides more important knowledge to determine the dimensions of these structures in clinic, surgical processes.

El estudio se realizó para determinar la morfometría del ancho y la altura de la abertura piriforme en la población turca de entre 18 y 60 años. Se llevó a cabo un análisis retrospectivo en el que se incluyeron 200 sujetos 106 hombres y 94 mujeres, entre los 18 y 60 años. Sujetos con TC cerebral en el Departamento de Radiología. El análisis estadístico se evaluó con el programa SPSS 21.00. La prueba ANOVA se utilizó para determinar la importancia entre las mediciones y el grupo de edad. El valor p <0,05 se consideró significativo. La muestra se dividió en cuatro grupos según la edad. Las medias generales y las desviaciones estándar de las mediciones fueron: altura de apertura piriforme, 45,19 ± 2,91 mm; ancho de apertura piriforme, 24,98 ± 2,85 mm; la proporción áurea, 1,84 ± 0,19 en varones, mientras que las mismas medidas fueron 42,84 ± 2,88; 23,46 ± 2,15 mm; 1,83 ± 0,19 en mujeres. También hubo un aumento en la medición del ancho de apertura piriforme a medida que la edad aumentó. Estos valores anatómicos proporcionan un conocimiento más importante para determinar las dimensiones de estas estructuras en procesos clínicos y quirúrgicos.

Assessment of nasal profiles for forensic facial approximation in a modern Korean population of known age and sex.

The nose is a valuable facial feature for facial recognition and approximation. We propose the use of regression functions to predict nasal profiles comprising the structures around the piriform aperture using CT-based 3D models. We examined craniofacial reconstruction models acquired from computed tomographic images of Korean adults (188 males and 201 females). Eighteen measurements using 16 craniometric landmarks were measured on 3D craniofacial models. We conducted a descriptive analysis with comparisons according to sex, and simple linear regression analyses to obtain regression functions. Using multiple regression analyses with sex and age as independent variables, multiple regression equations were developed with coefficient of determination R2 ranging from 0.314 to 0.724, meaning that the equations for known sex and age were better for the prediction of nasal profiles than equations that assumed only known sex. These equations are useful and practical for reconstructing nasal profiles in forensic analyses.

Evaluation of apertura piriformis and related cranial anatomical structures through computed tomography: golden ratio.

BACKGROUND: The purpose of study was to evaluate normal morphometric measurements of piriform aperture (PA) by limiting the age range in genders to show the morphometry of the relevant and close proximal cranial structures; and also to investigate whether these are in compliance with the golden ratio. MATERIALS AND METHODS: Our study was performed on 83 (42 female, 41 male) multidetector computed tomography images obtained from patients. A total of 14 morphological measurements were performed including the height of PA, the width of PA and 12 cranial structures; and these measurements were evaluated for compliance with the golden ratio. The differences of 14 parameters between the genders and age groups, and also the interaction of these two factors were analysed. RESULTS: In our morphometric study, significant difference between the genders was found in all measurements except for the distance between vertex and rhinion (V~Rh), between rhinion and right foramen supraorbitalis (Rh~FSOR), between rhinion and left FSO (Rh~FSOL), and the width of PA on the level between the right and left foramen infraorbitalis (PAW~FIO) with the difference valid for both age subgroups (p < 0.05). When the differences between the age subgroups were evaluated, there was significant difference only at the widest distance of cranium (CW; p = 0.008); and it was observed that the average has increased with age in both genders. When the golden ratio was examined, the ratio of the distance between anterior nasal spine and nasion to the height of piriform aperture (NSA~N:PAH) was found to be within the limits of the golden ratio in males (p = 0.074). No golden ratio has been found in females. CONCLUSIONS: In our study, significant differences were detected between genders in all parameters of PA and in some parameters of the close cranial structures in the age group we examined. The effect of age was detected only in the CW parameter, and the PA and close cranial structures were not affected. In our study, the averages of the morphometric measurements of 13 parameters of young adults were determined. The PA and surrounding cranial structures are important for the area and related surgical procedures; however, gender differences must be considered in this respect. In addition to this, in the PA, which is the anterior limit of the skeletal nose in males, the NSA~N:PAH ratio having the ideal golden ratio limits is valuable in aesthetical terms and due to its position of the PA in the face.

Nasal or canthal-alar parentheses: A study of the facial base of the nose.

OBJECTIVES: The facial implantation of the osseous nasal pyramid corresponds to the piriform aperture, the shape of which is projected on the facial skin in the form of bracket-shaped parentheses. The objective of this study was to compare inter-parenthesis width with subjective visibility on frontal photographs. MATERIAL AND METHODS: The "patient" group came from a retrospective cohort of photographs taken ahead of septorhinoplasty. The "model" group photographs were collected from the Web or magazines. Nasal parentheses were first judged subjectively as frank or faint. Then, independently, parenthesis width was measured by computer in pixels and converted into millimeters by iris-dependent calibration. Inter-parenthesis width was compared statistically with the frank/faint assessment, according to gender and group. RESULTS: A total of 113 photographs were included: 46 patients (19 women, 27 men) and 67 models (43 women, 24 men). Sixty-seven of the 113 nasal parentheses appeared frank (59.3%), more frequently in men than women (70.6% vs 50.0%, P=0.02) and in patients than models (69.6% vs 52.2%, P=0.06). Inter-parenthesis width was significantly greater in frank than faint presentations (34.9±3.5mm vs 30.7±3.4mm, P<0.0001), in men than women (35.2±4.1mm vs 31.5±3.1mm, P<0.0001), and in patients than models (34.9±4.0mm vs 32.0±3.6mm, P<0.0001). CONCLUSION: Frank nasal parentheses correspond to wider facial implantation of the nose.

The ontogeny of nasal floor shape variation in extant humans.

Variation in nasal floor topography has generated both neontological and paleontological interest. Three categories of nasal floor shape (Franciscus: J Hum Evol 44 (2003) 699-727) have been used when analyzing this trait in extant humans and fossil Homo: flat, sloped, and depressed (or "bi-level"). Variation in the frequency of these configurations within and among extant and fossil humans has been well-documented (Franciscus: J Hum Evol 44 (2003) 699-727; Wu et al.: Anthropol Sci 120 (2012) 217-226). However, variation in this trait in Homo has been observed primarily in adults, with comparatively small subadult sample sizes and/or large age gradients that may not sufficiently track key ontogenetic changes. In this study, we investigate the ontogeny of nasal floor shape in a relatively large cross-sectional age sample of extant humans (n = 382) ranging from 4.0 months fetal to 21 years post-natal. Results indicate that no fetal or young infant individuals possess a depressed nasal floor, and that a depressed nasal floor, when present (ca. 21% of the sample), does not occur until 3.0 years postnatal. A canonical variates analysis of maxillary shape revealed that individuals with depressed nasal floors were also characterized by relatively taller anterior alveolar regions. This suggests that palate remodeling at about 3.0-3.5 years after birth, under the influence of tooth development, strongly influences nasal floor variation, and that various aspects of dental development, including larger crown/root size, may contribute to the development of a depressed nasal floor. These results in extant humans may help explain the high frequency of this trait found in Neandertal and other archaic Homo maxillae.

Morphometric analysis of infraorbital foramen in Indian dry skulls.

We analyzed the variability in position, shape, size and incidence of the infraorbital foramen in Indian dry skulls as little literature is available on this foramen in Indians to prevent clinical complications during maxillofacial surgery and regional block anesthesia. Fifty-five Indian skulls from the Department of Anatomy CSM Medical University were examined. The 110 sides (left and right) of the skulls were analyzed by measuring the infraorbital foramina distances from infraorbital margin and the piriform aperture on both sides. The vertical and horizontal dimensions were also measured. All measurements were taken with a compass transferred to calipers and analyzed statistically. The mean distances between the infraorbital foramen and the infraorbital margin on the right and left side were 6.12 mm and 6.19 mm, respectively. The mean distances between the infraorbital foramen and the piriform aperture were 15.31 mm and 15.80 mm on the right and left sides, respectively. The mean vertical dimensions on the right and left side were 3.39 mm and 3.75 mm, respectively. The mean horizontal dimensions on the two sides were 3.19 mm and 3.52 mm. These results provide detailed knowledge of the anatomical characteristics and clinical importance of the infraorbital foramina which are of paramount importance for surgeons when performing maxillofacial surgery and regional block anesthesia.

Morphometric analysis of infraorbital foramen in Indian dry skulls / 대한해부학회지

We analyzed the variability in position, shape, size and incidence of the infraorbital foramen in Indian dry skulls as little literature is available on this foramen in Indians to prevent clinical complications during maxillofacial surgery and regional block anesthesia. Fifty-five Indian skulls from the Department of Anatomy CSM Medical University were examined. The 110 sides (left and right) of the skulls were analyzed by measuring the infraorbital foramina distances from infraorbital margin and the piriform aperture on both sides. The vertical and horizontal dimensions were also measured. All measurements were taken with a compass transferred to calipers and analyzed statistically. The mean distances between the infraorbital foramen and the infraorbital margin on the right and left side were 6.12 mm and 6.19 mm, respectively. The mean distances between the infraorbital foramen and the piriform aperture were 15.31 mm and 15.80 mm on the right and left sides, respectively. The mean vertical dimensions on the right and left side were 3.39 mm and 3.75 mm, respectively. The mean horizontal dimensions on the two sides were 3.19 mm and 3.52 mm. These results provide detailed knowledge of the anatomical characteristics and clinical importance of the infraorbital foramina which are of paramount importance for surgeons when performing maxillofacial surgery and regional block anesthesia.

Sexual dimorphism determination by piriform aperture morphometric analysis in Brazilian human skulls / Determinación de dimorfismo sexual mediante análisis morfométrico de la apertura piriforme en cráneos humanos brasileños

The sex determination of human skeletons is important in forensic and anthropological research. It can be carried out through qualitative or quantitative analysis of morphological parameters of dimorphism. The shape of the piriform aperture is one of the classic indicators of sexual dimorphism since it describes differences between males and females according to strong population-specific behavior. The purpose of this study was to analyze the presence of sexual dimorphism in the size of the piriform aperture and its relationship with individual skin color. We used 90 human skulls from the Collection of the Federal Universidad de São Paulo (UNIFESP), with registered data on sex, age and skin color (classified as white, black and brown). The dimensions studied were: height, upper width and lower width of piriform aperture. All dimensions were greater in males than females, however, only the piriform aperture height was found to be significant with p <0.01. By analyzing differences and grouping them according skin color, the piriform aperture height was found to be significantly higher (p <0.05) in white, black and brown males. In the group of black individuals skulls, we found significant differences in the upper width (p <0.05). The main differences, related to the piriform aperture height and the low influence of skin color in the presence of sexual dimorphism in the piriform aperture size, are in contrast with what has been reported in the literature and justify the revision of the classic indicators used for diagnosis of sex in specific populations.

El diagnóstico del sexo a partir de osamentas humanas es importante en investigación antropológica y forense, éste puede ser realizado mediante análisis cualitativos o cuantitativos de parámetros morfológicos de dimorfismo. La forma de la apertura piriforme es uno de los indicadores clásicos de dimorfismo sexual, a partir de ella se han descrito diferencias entre hombres y mujeres en sus dimensiones, con un fuerte comportamiento población-específico. El propósito de este estudio fue analizar la presencia de dimorfismo sexual en las dimensiones de la apertura piriforme y su relación con el color de piel de los individuos. Se utilizaron 90 cráneos humanos de la Colección de la Universidade Federal de São Paulo (UNIFESP), con registro de sexo, edad y color de piel (clasificadas en blanco, negro y pardo). Las dimensiones analizadas fueron: altura, ancho superior e inferior de la apertura piriforme. Todas las dimensiones resultaron mayores en hombres que en mujeres, sin embargo, sólo la altura de la apertura piriforme resultó ser significativa con p<0.01. Al analizar las diferencias agrupándolas por color de piel, obtuvimos que la altura de la apertura piriforme resultó ser mayor y significativa (p<0.05) en hombres blancos, negros y pardos. En el grupo de cráneos de individuos negros, además, encontramos diferencias significativas en el ancho superior (p<0.05). Las principales diferencias encontradas, referidas a la altura de la apertura piriforme, y la baja influencia del color de piel en la presencia de dimorfismo sexual en las dimensiones de la apertura piriforme, contrastan con lo reportado en la literatura y justifican la revisión de los indicadores clásicos utilizados para el diagnóstico del sexo en poblaciones específicas.

A Case of Congenital Nasal Piriform Aperture Stenosis (CNPAS) / 소아알레르기및호흡기학회지

The congenital nasal piriform aperture stenosis (CNPAS) is a rare cause of neonatal airway obstruction and could be easily mistaken as the choanal stenosis or atresia. The piriform aperture is a term used to refer to the anterior nasal openings. The nasal airway obstruction in the neonate can result in respiratory difficulties and may be going to life threatening consequences. Computed tomography demonstrates in detail the underlying anatomic abnormalities which allows differentiation of the CNPAS from other upper airway abnormalities. We reported a case of CNPAS, a 1-month-old male infant presented with respiratory difficulties. Shortly after birth, he had mild respiratory difficulties and there was difficulty passing a nasal catheter intranasally. But he was improved through only conservative management and discharged at the age of 5 days. At the age of 1 month, CT scan revealed bilateral CNPAS.

THE ANATOMY OF THE BONY PART OF THE HUMAN EXTERNAL NOSE IN THE CHINESE / 解剖学报

The bony part of the external nose was observed and measured in 150 Chinese adult skulls (male 100, female 50), The results are as follows.1. The nasion consists of the upper end of the nasal bone and the nasal part of the frontal bone. It is the anterior wall of the frontonasal canal. The average thickness of this wall is 8.08?0.11 mm.2. Features of the nasal bone: 144 cases (288 sides, 96.00％) are oblong and 4 cases (8 sides, 2.67％) are triangular in shape, in 2 cases (4 sides, 1.33％) the right sides are oblong and the left sides are triangular in shape. The length, width and thickness of the nasal bone were measured.3. The frontal process of the maxilla, according to the feature and clinical importance of the topographical characteristics, can be divided into upper, middle and lower portions. (1) The upper portion is a somewhat flat bony process, its anterior surface is flat and posterior surface is rough, which related to the ethmoid cell closely. The average width and thickness of this portion are 8.45?0.06mm and 5.72?0.09mm respectively. (2) The middle portion is the surgical area of the nasolacrimal fistulation. The average width of the part anterior to the anterior lacrimal crest (nasal part) is 6.77?0.05mm; and the average width of the part posterior to the crest (lacrimal part) is 4.97?0.04mm. The average thickness of the middle point of the anterior lacrimal crest is 4.68?0.08mm. (3) The lower portion is the transitional area of the frontal process and the corpus of the maxilla. It is a three-facet pyramid with an obtuse sulcus on its anterior lateral surface the nasofacial sulcus, which is the landmark between the external nose and face. The average width from the lower end of the nasomaxillary suture to the bottom of the sulcus is 8.16?0.04mm. The average thickness is 1.70?0.02mm.4. The margin of the piriform aperture: (a) The upper part of the margin formed by the lower border of the nasal bone, the upper border of the upper lateral cartilage of the nose digs behind it and joins each other by a syndesmosis; (b) the width of the lateral part of this margin was measured from the free border of the margin to the anterior end of the inferior turbinate, the average width is 2.62?0.07mm; (c) the lower margin of the piriform aperture and the anterior nasal spine, according to the anthropological classification, were observed and their clinical significance were discussed.