A case of Klippel–Feil syndrome with congenital enlarged Eustachian tube

Jovankovičová, Andrea; Jakubı́ková, Janka; Ďurovčíková, D.

doi:10.1016/j.ijporl.2012.01.007

Cited by 11 publications

(14 citation statements)

References 15 publications

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“…It is likely that the histopathological findings described by Kodama in 1982 were a similar case. 5 Jovankovicova et al 1 and Haginomori et al 4 both describe the same type of ET anomaly, in a patient with Klippel-Feil syndrome and oculoauriculo-vertebral (OAV) spectrum, respectively.…”

Section: Introductionmentioning

confidence: 95%

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Abnormally wide eustachian tubes involving the sphenoid bone: A collection

Falkenberg-Jensen

Heimdal

Høgevold

et al. 2018

Laryngoscope Investig Oto

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ObjectivesTo present nine patients with an abnormal widened bony Eustachian tube running anteriorly in the skull base through the sphenoid bone.MethodsPatients with a particular anomaly in the bony Eustachian tube incidentally found on CT examinations were registered consecutively over a period of four years.ResultsNine patients had the anomaly, eight unilaterally and one bilaterally. All our patients had additional anomalies involving the outer, middle, and/or inner ear.ConclusionThe consequences of this anomaly remain unknown, but the presence of the widened, bony ET should increase the awareness for complex temporal bone deformities and vice versa.Level of Evidence4.

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Section: Introductionmentioning

confidence: 95%

“…and ). As far as we are aware, the condition is previously described in four single‐case reports based on computed tomography (CT) findings. It is likely that the histopathological findings described by Kodama in 1982 were a similar case .…”

Section: Introductionmentioning

confidence: 99%

Abnormally wide eustachian tubes involving the sphenoid bone: A collection

Falkenberg-Jensen

Heimdal

Høgevold

et al. 2018

Laryngoscope Investig Oto

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“…Various osseous and non-osseous anomalies are associated with KFS, the most common being scoliosis seen in 70% of cases [4]. Other commonly associated skeletal anomalies include Sprengel deformity (20-30%), spina bifida occulta (45%), and craniovertebral junction anomalies; all of these were seen in our patient [5]. Due to fusion anomalies (fused posterior elements of C4-C5 and C5-C6 vertebrae) and multiple hemivertebrae at D1, D9, and L5 seen in the patient, our patient fit the criteria for type II KFS [3].…”

Section: Discussionmentioning

confidence: 68%

Klippel-Feil syndrome with multiple skeletal anomalies, Dandy-Walker spectrum, and occipital cephalocele—a rare presentation

Shoaib

Swarup

Pradhan

2021

Egypt J Radiol Nucl Med

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Background Klippel-Feil syndrome (KFS) is a congenital malformation causing fusion of at least two cervical vertebrae and characterized clinically by presence of triad of short neck, limited neck movements, and low posterior hair line. Various skeletal and non-skeletal anomalies may be seen in association with KFS. Case presentation We present a case of 6-year-old boy of KFS with various skeletal anomalies such as multiple segmentation and formation anomalies of the spine including anomalies of craniovertebral junction (CVJ), spina bifida occulta, scoliosis, Sprengel deformity of right shoulder, and multiple rib anomalies, as well as neurological anomalies like Dandy-Walker spectrum and atretic occipital cephalocele. Conclusion To the best of our knowledge, association of such extensive skeletal anomalies and Dandy-Walker spectrum with KFS has been uncommonly reported in the literature. This case highlights the importance of knowledge of various common and uncommon associations of KFS to avoid missing significant anomalies.

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“…Among the various craniofacial anomalies associated with KFS, facial asymmetry occurs in 13% to 20% of cases (Martínez-Quintana and Rodríguez-González 2015; Naikmasur et al 2011;Kerai and Saxena 2014;Jovankovičová et al 2012). This facial asymmetry is very significant in skull 778, including the nasal area, where the part of piriform aperture and the nasal bones are asymmetrical, with the nasal septum laterally deviated from the sagittal plane.…”

Section: Differential Diagnosismentioning

confidence: 99%

Klippel-Feil Syndrome: morphological findings in a 19th-century musealized skull from Viana del Bollo (Orense, Spain)

López

Dorado

Galassi

et al. 2022

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The aim of this study is to show the cranial alterations that Klippel-Feil syndrome produced in a case older than 200 years. Few paleopathological case studies diagnosed as Klippel-Feil Syndrome are focused on cranial abnormalities. A skull numbered 778, belonging to the Federico Olóriz Aguilera collection (Spain, 19th century AD), Universidad Complutense de Madrid, belonging to a young man born in a town in the North of Spain, was investigated. This cranium was visually inspected, hence macroscopically and paleoradiologically studied, using the images obtained through conventional radiology and CT scan imaging. In addition to the vertebral fusion between the atlas (C1) and the axis (C2), atlanto-occipital fusion, basilar impression, obliteration of the sagittal suture, enlarged parietal foramina and significant craniofacial asymmetry affecting maxillary bones, sphenoid, orbits, nasal bones and both palatines were observed. Morphological findings make it possible to diagnose a Klippel-Feil syndrome, possibly type-II, although the lack of the rest of the spinal column renders it impossible to verify other spinal anomalies. As a limitation, only the cranium and two cervical vertebrae were preserved, hence the possible involvement of the rest of the skeleton cannot be verified.

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A case of Klippel–Feil syndrome with congenital enlarged Eustachian tube

Cited by 11 publications

References 15 publications

Abnormally wide eustachian tubes involving the sphenoid bone: A collection

Abnormally wide eustachian tubes involving the sphenoid bone: A collection

Klippel-Feil syndrome with multiple skeletal anomalies, Dandy-Walker spectrum, and occipital cephalocele—a rare presentation

Klippel-Feil Syndrome: morphological findings in a 19th-century musealized skull from Viana del Bollo (Orense, Spain)

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