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      CT findings of congenital neonatal pyriform aperture stenosis

      case-report

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          ABSTRACT

          Congenital neonatal pyriform aperture stenosis (CNPAS) is a rare but potentially lethal condition that causes respiratory distress. The characteristic narrowing of the pyriform aperture along with other associated craniofacial dysmorphism is diagnosed using cross-sectional imaging such as computed tomography (CT) and magnetic resonance imaging. CT scan is the imaging of choice for confirming and characterizing CNPAS. Infants are obligate nasal breathers in the first 5 months of life. Hence, a high degree of clinical suspicion, prompt imaging diagnosis and adequate respiratory support is critical to help reduce the morbidity of this condition.

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          SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.

          M Aldred, D. Hall, Tobi Ming … (2001)
          Solitary median maxillary central incisor (SMMCI) or single central incisor is a rare dental anomaly. It has been reported in holoprosencephaly (HPE) cases with severe facial anomalies or as a microform in autosomal dominant HPE (ADHPE). In our review of the literature, we note that SMMCI may also occur as an isolated finding or in association with other systemic abnormalities. These anomalies include short stature, pituitary insufficiency, microcephaly, choanal atresia, midnasal stenosis, and congenital nasal pyriform aperture stenosis. SMMCI can also be a feature of recognized syndromes or associations or a finding in patients with specific chromosomal abnormalities. We performed a molecular study on a cohort of 13 SMMCI patients who did not have HPE. We studied two genes, Sonic Hedgehog (SHH) and SIX3, in which mutations have been reported in patients showing SMMCI as part of the HPE spectrum. A new missense mutation in SHH (I111F), segregating in one SMMCI family, was identified. Our results suggest that this mutation may be specific for the SMMCI phenotype since it has not been found in the HPE population or in normal controls. Published 2001 Wiley-Liss, Inc.
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            Current Updates on Choanal Atresia

            Kelvin M. Kwong (2015)
            Choanal atresia (CA) is a relatively uncommon but well-recognized condition characterized by the anatomical closure of the posterior choanae in the nasal cavity. Since the original description back in the early eighteenth century, there have been controversies regarding its exact pathogenesis, the optimal surgical approach, and the use of adjunct treatments such as post-surgical stenting and anti-neoplastic agents, despite of abundant literature available. The emergence and development of new technologies play a significant role in the management of this condition. This review provides a comprehensive clinical update on CA and identifies areas for future study based on the existing available literature.
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              Congenital nasal pyriform aperture stenosis.

              Stephen B. R. E. Brown, C Myer, S Manning (1988)
              Congenital nasal pyriform aperture stenosis is an unusual and previously undescribed cause of nasal airway obstruction in the newborn. The nasal pyriform aperture is narrowed due to bony overgrowth of the nasal process of the maxilla. This anomaly may produce signs and symptoms of nasal airway obstruction in newborns and infants similar to those seen in bilateral posterior choanal atresia. Computed tomography confirms the diagnosis and delineates the anomaly. A series of six patients with nasal pyriform aperture stenosis is presented. Four patients were treated with surgical enlargement of the nasal pyriform aperture via a sublabial approach. One patient was repaired via a transnasal approach, and one patient did not undergo surgical intervention. Follow-up reveals normal nasal airway and facial growth in all patients. Mildly symptomatic patients with congenital nasal pyriform aperture stenosis may be treated expectantly, while severely symptomatic patients benefit from repair via the sublabial approach.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Oxf Med Case Reports
                Journal ID (iso-abbrev): Oxf Med Case Reports
                Journal ID (publisher-id): omcr
                Title: Oxford Medical Case Reports
                Publisher: Oxford University Press
                ISSN (Electronic): 2053-8855
                Publication date Collection: May 2021
                Publication date (Electronic): 24 May 2021
                Publication date PMC-release: 24 May 2021
                Volume: 2021
                Issue: 5
                Electronic Location Identifier: omab018
                Affiliations
                [1 ] Department of Radiology, Sabah Women & Children’s Hospital , Kota Kinabalu, Malaysia
                [2 ] Faculty of Medicine & Health Sciences , Universiti Malaysia Sabah, Kota Kinabalu, Sabah, Malaysia
                [3 ] Department of Radiology , Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Malaysia
                Author notes
                Correspondence address. Faculty of Medicine & Health Sciences, Universiti Malaysia Sabah, 88400 Kota Kinabalu, Malaysia. Tel: +60 88-320 000; E-mail: tehyongguang@ 123456gmail.com
                Article
                Publisher ID: omab018
                DOI: 10.1093/omcr/omab018
                PMC ID: 8143663
                PubMed ID: 34055355
                SO-VID: 6c213ade-ff2c-4e6b-b53e-c6d3e6e327d8
                Copyright © © The Author(s) 2021. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com
                License:

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com

                History
                Date received : 30 November 2021
                Date revision received : 27 December 2020
                Date accepted : 13 February 2021
                Page count
                Pages: 00
                Categories
                Subject: Case Report
                Subject: AcademicSubjects/MED00010
                Subject: omcrep/2100
                Subject: omcrep/1700

                Keywords: radiology,nuclear medicine,medical imaging,paediatrics
                Data availability:
                Keywords: radiology, nuclear medicine, medical imaging, paediatrics

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