Congenital Nasal Pyriform Aperture Stenosis Research Articles

Comparison of Surgical Techniques for the Treatment of Congenital Nasal Pyriform Aperture Stenosis: A Systematic Review.

Congenital nasal pyriform aperture stenosis (CNPAS) is a rare condition that results in neonatal respiratory difficulty. The purpose of this systematic review was to compare surgical outcomes of drilling versus dilation techniques in the treatment of CNPAS. Pubmed, Embase, and Cochrane Clinical Trials databases were searched for terms "congenital nasal pyriform aperture stenosis" or "pyriform aperture stenosis" from 2010 to 2021. Twenty-five studies were included that evaluated pediatric patients treated surgically for CNPAS with available outcomes data including complications, revisions, and length of stay. A total of 51 patients with CNPAS were pooled from included studies. The median age was 29 days, 56.9% were female, and 54.9% were born full-term. The median pyriform aperture width before surgery was 5.00 mm (IQR = 4.10, 6.45). Forty (78.4%) patients underwent sublabial drilling, while 6 had a dilation procedure performed with hegar cervical dilators, 2 had a balloon dilation, and 3 were dilated with either an acrylic device, endotracheal tube, or bougie. There were no post-operative complications for 76.5% of patients, while a second surgery was required in 9 (17.6%) patients. The median length of stay was 11 days (IQR = 4, 26). No statistically significant difference was observed between sublabial drilling and surgical dilation techniques with respect to complications, need for revision surgery, or length of stay. Current literature is insufficient to determine if drilling or dilation is more effective in the treatment of CNPAS.

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

PurposeDISP1 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. MethodsThis 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. ResultsA 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). ConclusionThe 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.

A Case Report on Congenital Nasal Pyriform Aperture Stenosis

Introduction: Congenital nasal pyriform aperture stenosis is a rare cause of neonatal respiratory distress.
 Observation: A female neonate was born by cesarean section at 39 SA for hydramnios, triple scarred uterus and macrosomia. He was macrosomic and had no facial dysmorphia, he presented at H1 of life with respiratory distress and noisy mouth breathing. He cyanosed with each feeding attempt. On facial CT, the choanae were patent with a median central incisor and piriformis orifice stenosis. Nasal breathing gradually normalized. The hospitalization lasted 8 days with a good evolution.
 Discussion: Congenital piriformis stenosis is a rare cause of congenital nasal obstruction. The association with median incisor syndrome is not exceptional. Diagnosis must be made early for proper management. Cyanosis and false airway can be life threatening. Associated abnormalities should be investigated by CT and MRI. Treatment is variable and may be surgical if the stenosis is severe. The prognosis is good in the absence of severe malformations or associated mental retardation.
 Conclusion: In case of neonatal respiratory distress, the Congenital pyriformis stenosis must be among the causes, a rapid diagnostic assessment and management are necessary.

Congenital nasal pyriform aperture stenosis; our experience of 34 cases.

To study our population of patients with congenital nasal pyriform aperture stenosis (CNPAS) in terms of incidence and socioeconomic status; the effect of pyriform aperture size, gestational age, birth weight, and whether congenital abnormalities are associated with surgical requirement. Retrospective case note review of all patients treated for CNPAS at a single tertiary paediatric referral site was undertaken. Diagnosis was made on the basis of a pyriform aperture of <11mm on CT scanning; patient demographics were collected to explore risk factors for surgery and surgical outcomes. 34 patients were included in the series, 28 (84%) of whom underwent surgery. 58.8% of subjects had an associated mega central incisor. A smaller pyriform aperture size was seen in neonates requiring surgery (4.87mm±1.24mm vs 6.55mm±1.41mm, p=0.031). There was no difference in gestational age in neonates requiring surgery (p=0.074). Requirement for surgery was not associated with co-existing congenital anomalies (p=0.297) or lower birth weight (p=0.859). Low socioeconomic status was not significantly associated with requiring surgery but a potential link between CNPAS and deprivation was identified (p=0.0583). These results suggest that a pyriform aperture of less than 6mm requires surgical intervention. Associated birth anomalies add additional management considerations but in this cohort were not associated with increased need for surgery. A potential association between CNPAS and low socioeconomic status was identified.

Unilateral congenital nasal pyriform aperture stenosis and unilateral choanal atresia – a novel finding: A case report

Unilateral congenital nasal pyriform aperture stenosis and unilateral choanal atresia – a novel finding: A case report

Surgical correction of a bilateral congenital nasal pyriform aperture stenosis in a French Bulldog

A four-month-old, male, intact French Bulldog was presented with bilateral purulent nasal discharge and difficulties in breathing. A congenital nasal pyriform aperture stenosis with closure of both nasal cavities was diagnosed. The aperture was surgically opened through a midline approach, and a covered metallic stent (CMS) was inserted in each nasal cavity to prevent the newly constructed airway from obstructing. Seven weeks after implantation, the left nasal cavity was obstructed by granulation tissue. Further diagnostics revealed that the left stent had migrated caudally. The aperture had to be reopened and a new stent was placed. The right stent was removed endoscopically at that time, the left stent was removed six weeks after implantation. Four weeks after the removal of the left stent, the dog had normal airflow through both nares with very mild serous nasal discharge.

Congenital Nasal Pyriform Aperture Stenosis: Same CT Dimensions, Varied Scenarios.

Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of neonatal respiratory distress. We report a case series of four infants with similar radiological dimensions but while two needed surgery, two could be managed conservatively. The clinical presentation of the child and the response to conservative treatment, rather than the radiological dimensions were the main predictors for surgical intervention.

Acute Respiratory Distress in the Newborn: Congenital Nasal Pyriform Aperture Stenosis the Underlying Pathology

Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of neonatal upper airways obstruction. It can occur as an isolated anomaly or be associated with other cranial-facial defects. Clinically, CNPAS manifests as apneic crises, episodic cyanosis, and difficulty in feeding. Here we report a newborn developing respiratory distress after birth that required oxygen support and was confirmed diagnosis of CNPAS by computed tomography (CT) scan. The newborn had successfully undergone surgical intervention via the nasolabial approach.

Congenital nasal pyriform aperture stenosis with holoproencephaly: Diagnosis and surgical management

Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of neonatal nasal obstruction that clinically mimics choanal atresia. It occurs as a result of abnormal development of primary palate and maxilla, either in isolation or in association with other anomalies. Differentiation between CNSPAS and choanal atresia is critical as management approachers are quite different from one another. Diagnosis can be made clinically and with characteristics CT findings. Management options include both conservative and surgical approaches depending on the patient’s initial condition. Here is reported a case of 33 days infant who was admitted to our NICU with a working diagnosis of CNPAS after she presented with two days of fast breathing and failure to suckle, managed surgically and discharged improved.

Neonate with Respiratory Distress, Bilateral Microtia, Hypocalcemia, and Lymphopenia.

Neonate with Respiratory Distress, Bilateral Microtia, Hypocalcemia, and Lymphopenia.

A Case of Congenital Nasal Pyriform Aperture Stenosis Successfully Treated with Intranasal Tube Stenting

A Case of Congenital Nasal Pyriform Aperture Stenosis Successfully Treated with Intranasal Tube Stenting

Balloon dilation and rapid maxillary expansion: a novel combination treatment for congenital nasal pyriform aperture stenosis in an infant

BackgroundCongenital nasal pyriform aperture stenosis (CNPAS) is a rare condition that may occur alone or as part of a multi-formative syndrome. Management remains difficult. There is no specific treatment protocol. Traditional surgery would be anachronistic; a non-invasive or minimally invasive therapeutic option is required. However, the rarity of the disease and the infantile context render randomised clinical trials difficult.Case presentationWe present the case of a one-month-old Caucasian boy with CNPAS. He presented to the Emergency Department of the Bambino Gesù Pediatric Hospital with nasal obstruction, noisy breathing, feeding difficulties, and suspected sleep apnoea. During hospitalisation, he underwent overnight pulse oximetry, airway endoscopy, and maxillofacial computed tomography (CT); the final diagnosis was CNPAS with moderate obstructive sleep apnoea syndrome. We successfully treated the patient using an innovative strategy that involved collaboration between ear-nose-and-throat surgeons and orthodontists.ConclusionsA combination of minimally invasive balloon surgery and placement of a palatal device may successfully treat CNPAS; it may also treat other types of nasal bone stenosis. Future studies may allow the development of practice consensus treatment strategies.

Congenital Bilateral Dacryocystocele with Nasal Pyriform Aperture Stenosis

Congenital bilateral dacryocystocele with concomitant congenital nasal pyriform aperture stenosis is a very rare case we seen in the paediatric age group. We report a case referred by the paediatric department to rule out choanal stenosis. The referring department had difficulty to insert a feeding tube to the patient. Nose and throat examination showed reduce misting on cold spatula test and unable to introduce nasoendoscope into both nostrils, which indicates obstruction. Radiological investigation revealed as congenital dacryocystocele with nasal pyriform aperture stenosis. The patient was managed surgically with good recovery.

Congenital Nasal Pyriform Aperture Stenosis: Evidence of Premature Fusion of the Midline Palatal Suture

Various etiologies have been theorized for the development of congenital nasal pyriform aperture stenosis (CNPAS). Imaging possibly implicates abnormal fusion of the midline palatal suture and deficient lateral growth of the midface in affected neonates. A single-center, retrospective study was performed at a tertiary care pediatric hospital involving neonates and infants between 0 and 90 days of life. Maxillofacial CT scans of patients were reviewed. Abnormality of the palatal suture and midface transverse dimensions were measured and analyzed in patients with and without CNPAS. A total of 109 patients between 0 and 90 days of life had maxillofacial CT scans. Thirteen patients were classified as having CNPAS, 27 patients had normal scans (control group), and 69 patients were excluded because of the presence of other craniofacial anomalies. All patients with CNPAS had evidence of abnormal fusion of the midline palatal suture. Zero patients without CNPAS had a midline palatal suture abnormality. The mean widths of the pyriform aperture were 5.7 mm (SD, 1.7) in the CNPAS group and 13.1 mm (SD, 2.7) in the control group (P < .0001). The mean distance between the superior portions of the nasolacrimal ducts was 9.1 mm (SD, 2.1) in the CNPAS group, and the mean of the control group was 13.4 mm (SD, 2.2) (P < .0001). Patients with CNPAS have abnormal fusion of the midline palatal suture and exhibit lateral growth restriction of the midface. This may implicate synostosis of the midline palatal suture and abnormal midface growth.

Sublabial Approach for Repair of Congenital Nasal Pyriform Aperture Stenosis: How I Do It.

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Congenital nasal pyriform aperture stenosis: report of two cases

Congenital nasal pyriform aperture stenosis is a rare cause for congenital nasal obstruction. There are few publications about this severe condition. We report two cases of newborns diagnosed with congenital nasal pyriform aperture stenosis submitted to surgical treatment. Both had respiratory difficulty since birth, represented clinically by the difficulty during breastfeeding. No concomitant comorbidities were identified. The first patient underwent early surgical treatment, as she presented with severe respiratory distress. The second patient had failed conservative treatment and was also subjected to the surgical widening of the pyriform aperture. Both patients evolved uneventfully in the postoperative period. Congenital nasal pyriform aperture stenosis is part of the differential diagnosis of congenital nasal obstruction, being choanal atresia the most common finding. Its clinical presentation can vary from mild respiratory distress, which only disables breastfeeding, to respiratory failure at rest. As it is a rare occurrence, with few publications, its management is still controversial. The need for surgical management in both reported cases and a favorable evolution are highlighted, allowing hospital discharge and adequate breastfeeding. Level of evidence: Level V, therapeutic study.

Congenital nasal pyriform aperture stenosis with holoprosencephaly and Dandy–Walker malformation

Congenital nasal pyriform aperture stenosis (CNPAS) is a recognized but rare and unusual cause of nasal airway obstruction in neonates. We describe an infant who has CNPAS with megaincisor, holoprosencephaly, agenesis of the corpus callosum with Dandy–Walker malformation, and central diabetes insipidus to highlight the importance of recognizing the variable abnormalities associated with this condition.

Radiologic, genetic, and endocrine findings in isolated congenital nasal pyriform aperture stenosis patients

BackgroundCongenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of upper airway obstruction in neonates. It can occur either associated with a solitary median maxillary central incisor (SMMCI) in 40–75% of cases or as an isolated morphogenic variant. Brain MRI is routinely performed in patients with CNPAS with a SCMMI due to the concomitant risks of intracranial midline defects of the hypothalamic-pituitary axis (HPA), holoprosencephaly, or associated endocrine dysfunction. However, the role of routine brain imaging and endocrinologic evaluation in patients with isolated CNPAS is not frequently studied given the assumption that isolated CNPAS is unlikely to be associated with any intracranial findings. ObjectivesTo evaluate intracranial findings on dual brain MRI imaging in isolated CNPAS patients and to determine if any radiologic, endocrinologic, or genetic abnormalities existed in these patients. MethodsWe performed a single-institution retrospective review and case series of patients with isolated CNPAS from 2006 to 2019. Findings from dual brain MRI imaging, cytogenetic and karyotype testing, and formal endocrinologic testing were analyzed for each patient and compared to reported findings in isolated CNPAS patients within the literature. ResultsFrom 2006 to 2019, 16/29 patients were identified at our institution with isolated CNPAS. Inpatient otolaryngologic consultation, CT, and brain MRI imaging was obtained after a mean postnatal age of 3.21 days, 13.5 days, and 35.91 days, respectively. Dual brain MRI imaging was obtained in 12/16 (75%) patients. In our patients, abnormal MRI findings included hypothalamic hamartoma, pars intermedius cyst, and grades 1 and 4 germinal matrix hemorrhages. No holoprosencephaly was found in any patient. Genetic testing was performed on 10/16 (62.5%) patients. Karyotyping was normal in all patients and microarray testing was abnormal in 2/10 patients that represented a 2p16.3 deletion in one patient and a 7q36 deletion causing an unbalanced translocation mutation of the Sonic Hedgehog gene in the second patient. In the latter patient, a hypothalamic hamartoma and panhypopituitarism was found. Endocrine evaluation was performed in 5 patients and was normal in 3/5 patients. ConclusionsOur case series of isolated CNPAS patients identified multiple abnormalities on radiologic, genetic, and endocrine testing; one of which that involved a defect of the HPA with panhypopituitarism resulting from a hypothalamic hamartoma. Based upon our findings, dedicated brain MRI imaging, endocrinologic, and genetic testing, should likely be considered for any newly diagnosed, isolated CNPAS patient given the uncommon but potential risk for associated intracranial abnormalities.

An Unusual Cause of Upper Airway Obstruction in Newborn: Congenital Nasal Pyriform Aperture Stenosis

An Unusual Cause of Upper Airway Obstruction in Newborn: Congenital Nasal Pyriform Aperture Stenosis

Pyriform aperture stenosis repair in infants

Congenital nasal pyriform aperture stenosis is a rare developmental anomaly, which is considered a variant of holoprosencephaly. It is characterized by a pyriform aperture width of 11 mm or less on maxillofacial computed tomography, and is frequently associated with a solitary median maxillary central incisor. It presents with cyclical cyanosis, feeding difficulty, and respiratory distress. Conservative management includes nasal decongestant, saline and steroid drops, or a McGovern nipple. When conservative management fails, surgical intervention is indicated. Various methods of surgical repair have been described, 2 of which—nasal dilation and bone resection via a sublabial approach—are described in this article. The role of postoperative stenting is also discussed.