Airway features in Fraser syndrome: Case report and literature review

Álvarez-Neri, Hiram; Morán, Verónica; Torre, Carlos de la; Villamor, Perla; Grub, Jaime Penchyna

doi:10.1016/j.pedex.2017.09.004

Cited by 5 publications

(10 citation statements)

References 16 publications

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“…3,11 Patients may require a tracheostomy at birth, and the main cause of perinatal mortality is airway involvement. 15 Patients who survive past age 10, as in this case report, are less likely to have major phenotypic abnormalities. 3 Patients who survive past infancy should have surgical corrections of abnormalities, such as syndactyly, when possible.…”

Section: Discussionmentioning

confidence: 61%

Endoscopic Management of Lacrimal System Dysgenesis and Dacryocystoceles in Fraser Syndrome: A Case Report and Literature Review

Falls

Rabinowitz

Carrasco

et al. 2018

Allergy�Rhinol (Providence)

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BackgroundFraser syndrome is an autosomal recessive disorder characterized primarily by syndactyly, cryptophthalmos, urinary tract anomalies, ambiguous genitalia, and laryngeal anomalies. A 28-year-old man with Fraser syndrome presented with cryptophthalmos, microphthalmia, lacrimal system dysgenesis, and chronic sinusitis.ObjectiveThe patients’ clinical condition and surgical treatment are described. A literature review was conducted, and articles relevant to the case are presented.MethodsCase report.ResultsTo our knowledge, this is the first published case report of endonasal management of dacryocystoceles in a Fraser syndrome patient. The patient was treated via endoscopic endonasal marsupialization and drainage.ConclusionFraser syndrome patients may initially present to many different specialties as the spectrum of clinical manifestations is broad. Physicians treating these patients should take a collaborative approach to surgical and medical management.

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Section: Discussionmentioning

confidence: 61%

Endoscopic Management of Lacrimal System Dysgenesis and Dacryocystoceles in Fraser Syndrome: A Case Report and Literature Review

Falls

Rabinowitz

Carrasco

et al. 2018

Allergy�Rhinol (Providence)

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“…Apart cryptophtalmos other maxillofacial and oro-dental findings reported are facial asymmetry, upward slanting palpebral fissures, hypertelorism, tongue of hair extending from the anterior hairline to the forehead, the eyebrows and the upper-outer edge of the orbit, broad nose and/or nasal bridge (8-84%), short neck, cleft lip and palate (11%), high arched palate (12%), malocclusion, dental crowding, fusion of primary teeth, dental hypoplasia, supragingival calculus, microdontia, retained deciduous teeth, hypodontia and short roots 2,16-18 (Figure1a and 1b). Airway disorders (laryngeal compromise) are found in 21-83% of the cases of FS 19 . Subglottic stenosis and laryngeal webs or laryngotracheal atresia are the most frequent laryngotracheal disorder.…”

Section: Clinical Presentationmentioning

confidence: 99%

“…Airway compromises represent a risk factor for death in infancy and early childhood, and appropriate management may be difficult due to the high incidence of recurrence, especially in the case of laryngeal webs 19,50,51 . Tracheostomy at birth could be necessary to keep the airway and preserve the patient's life 52 .…”

Section: Airwaysmentioning

confidence: 99%

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Fraser syndrome: review of the literature illustrated by a historical adult case

Bouaoud

Olivetto

Testelin

et al. 2020

International Journal of Oral and Maxillofacial Surgery

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Fraser syndrome (cryptophthalmos-syndactyly syndrome) is a rare autosomal recessive malformation disorder. The first description of the syndrome was reported by George Fraser in 1962. The diagnostic is based on major criteria and minor criteria established by van Haelst et al., In 2007. Unilateral or bilateral cryptophthalmos, syndactyly, unilateral renal agenesis and genital anomalies are the most frequent anomalies. Several maxillofacial, oro-dental, ear-nose-throat, hormonal and anorectal disorders are reported. Cardiac malformations, and musculoskeletal anomalies are uncommon. The syndrome id related to mutations in three different genes (FRAS1, FREM2, and GRIP1) resulting in failure of the apoptosis program and disruption of the epithelial-mesenchymal interactions during embryonic development. Prenatal diagnosis is based on detection of renal agenesis and laryngeal atresia together with a family history. Most of the fetuses with severe anomalies are terminated or resulted in stillbirth. All patient or pregnancy with a diagnosis of FS should be referred to expert centers. For the management, a collaborative approach of anesthetists, ENT, maxillofacial surgeons, geneticists is necessary. In vivo and in vitro research models are available to better understand the underlying etiology.

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“…Complex syndactyly occurs as part of a syndrome (such as Apert syndrome) and typically involves many fingers [4,[6][7][8]. This condition in fingers and toes may occur in all parts of the body that require interfusion to be elimi-nated during pregnancy [8][9][10]. These conditions can be seen for fingers and toes, eyelids or even vocal folds in Fraser syndrome [1], however, vocal folds involvement is less common than involvement of the fingers, toes, and eyes [9].…”

Section: Introductionmentioning

confidence: 99%

Fraser Syndrome, Evaluation of the Laryngeal and Voice Characteristics: A Case Report

Abolfazl¹,

Mansuri²

2020

Int Arch Commun Disord

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Introduction: Fraser syndrome is one of the rare congenital anomalies occurring when fingers or toes, and eyelid formation fail to separate during pregnancy. The purpose of this paper is to report the results of laryngeal and voice evaluation in a patient with Fraser syndrome. Case description:The case is an eleven-years-old girl with Fraser syndrome who underwent laryngeal examination with laryngoscopy and also auditory-perceptual and acoustic voice characteristics evaluations. The results of the laryngoscopy showed that the vocal folds are webbed and most of the anterior-posterior part of the vocal folds is connected. Only one cleft on the posterior part of the larynx is exist which is the child's breathe performed through it. The results of the auditory-perceptual evaluation of the voice using the GRBAS scale showed that the grade of voice disorder, asthenicity, and strain of the child's voice are very severe. Also, the results of the acoustic voice evaluations showed that the acoustic characteristics of the child's voice are outside of the normal range, and most of the time, the child's speech is voiceless, and the speech produced by the person is like whispering. Conclusions: This report indicated that laryngeal web inFraser syndrome can cause most negative effects on the auditory-perceptual and acoustic characteristics of the person's voice. Therefore, these patients need to be evaluated by visual assessment of the larynx, auditory-perceptual and acoustic assessment of voice.

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Airway features in Fraser syndrome: Case report and literature review

Cited by 5 publications

References 16 publications

Endoscopic Management of Lacrimal System Dysgenesis and Dacryocystoceles in Fraser Syndrome: A Case Report and Literature Review

Endoscopic Management of Lacrimal System Dysgenesis and Dacryocystoceles in Fraser Syndrome: A Case Report and Literature Review

Fraser syndrome: review of the literature illustrated by a historical adult case

Fraser Syndrome, Evaluation of the Laryngeal and Voice Characteristics: A Case Report

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