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      • Record: found
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      Nariz bífida: Presentación de caso Translated title: Bifid Nose: Case presentation

      case-report

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          Abstract

          RESUMEN Objetivo: Una nariz bífida es una anomalía congénita poco común que ocurre durante el desarrollo embriológico de la nariz. En 1939, Esser publicó una serie de 11 casos. Reporte de Caso: A continuación, presentamos el caso de una niña que nació con una nariz bifurcada que fue manejada con una traqueotomía para asegurar la vía aérea. Posteriormente, a los 6 meses de edad, se sometió a una primera intervención para mejorar el aspecto externo de la nariz.

          Translated abstract

          ABSTRACT Objetive: A bifid nose is a rare congenital anomaly that occurs during embryological development of the nose. In 1939, Esser published a series of 11 cases. Case Report: Here we present the case of a girl who was born with a forked nose that was managed with a tracheostomy to secure the airway. Later, at 6 months of age, she underwent a first intervention to improve the external appearance of the nose.

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          Most cited references9

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          FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.

          Anas M Alazami, Ranad Shaheen, Fatema Alzahrani … (2009)
          An autosomal-recessive syndrome of bifid nose and anorectal and renal anomalies (BNAR) was previously reported in a consanguineous Egyptian sibship. Here, we report the results of linkage analysis, on this family and on two other families with a similar phenotype, which identified a shared region of homozygosity on chromosome 9p22.2-p23. Candidate-gene analysis revealed homozygous frameshift and missense mutations in FREM1, which encodes an extracellular matrix component of basement membranes. In situ hybridization experiments demonstrated gene expression of Frem1 in the midline of E11.5 mouse embryos, in agreement with the observed cleft nose phenotype of our patients. FREM1 is part of a ternary complex that includes FRAS1 and FREM2, and mutations of the latter two genes have been reported to cause Fraser syndrome in mice and humans. The phenotypic variability previously reported for different Frem1 mouse mutants suggests that the apparently distinct phenotype of BNAR in humans may represent a previously unrecognized variant of Fraser syndrome.
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            Surgical correction of bifid nose

            Ahmed Abd El-fattah, Ali Tawfik, Hossam Elsayed El-Sisi (2016)
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              THE SURGICAL TREATMENT OF THE BIFID NOSE

              JEROME P. WEBSTER, EDWARD DEMING, JP Webster … (1950)
              Article 0 comments Cited 4 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (publisher-id): rcmhnaaa
                Title: Revista del Cuerpo Médico Hospital Nacional Almanzor Aguinaga Asenjo
                Abbreviated Title: Rev. Cuerpo Med. HNAAA
                Publisher: Cuerpo Médico Hospital Nacional Almanzor Aguinaga Asenjo (Chiclayo, , Peru )
                ISSN (Print): 2225-5109
                ISSN (Electronic): 2227-4731
                Publication date (Print and electronic): January 2021
                Volume: 14
                Issue: 1
                Pages: 67-70
                Affiliations
                [3] Bogotá Bogotá orgnameUniversidad El Bosque Colombia
                [2] Campus Cajeme, Cd Obregón, Sonora orgnameUniversidad de Sonora orgdiv1Servicio Social Mexico
                [1] Cd Obregón, Sonora orgnameInstituto Mexicano del Seguro Social orgdiv1Servicio de Otorrinolaringología del Hospital de Especialidades No 2 "Luis Donaldo Colosio Murrieta Mexico
                Article
                Publisher ID: S2227-47312021000100011 Publisher ID: S2227-4731(21)01400100011
                DOI: 10.35434/rcmhnaaa.2021.141.885
                SO-VID: 784d67ac-ab41-4186-af8a-bc3ee2ffe9a4
                License:

                This work is licensed under a Creative Commons Attribution 4.0 International License.

                History
                Date received : 25 February 2020
                Date accepted : 30 March 2021
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 9, Pages: 4
                Product

                SciELO Peru

                Categories
                Subject: Reporte de Casos

                Keywords: bífida,Congenital Anomalies,nose,bifida,anomalías congénitas,nariz
                Data availability:
                Keywords: bífida, Congenital Anomalies, nose, bifida, anomalías congénitas, nariz

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