Klippel Feil syndrome – a case report

Agarwal, Vikas; Chikkanna, Somashekhar; Jaiswal, Vijay; Aggarwal, Pooja

doi:10.13070/rs.en.1.858

Cited by 8 publications

(15 citation statements)

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“…KFS is a congenital disorder of cervical vertebrae that may show a familial or sporadic pattern(1). Cervical vertebral segmentation defects referred to as Klippel Feil Anomaly involving fusion of two or more cervical spine segments which occurs due to failure of normal segmentation & fusion processes of mesodermal somites occurring during 3 rd -8 th week of embroyonic life (7).…”

Section: Discussionmentioning

confidence: 99%

“…The clinical presentation in KFS could be diverse, ranging from asymptomatic to serious signs such as sensory abnormality, asymmetric reflexes, altered cerebellar functions, long tract signs and pain (6). Associated anomalies as enumerated earlier like congenital scoliosis or kyphosis (60%), renal disease (35%), sprengel deformity (30%), synkinesis or mirror movements (20%), torticollis, hearing loss (30%), congenital heart defects (4-14%) could be seen (7). Atlanto occipital assimilation aka occipitalization of atlas is found to be reported in 30% of KFS case with overall incidence of 0.08 -3% in general population (8).…”

Section: Discussionmentioning

confidence: 99%

“…Pathogenesis of KFS involves various genetic mutations in genes like GDF 6, GDF 3, MEOX 1 and RIPPLY 2 (4). Associated anomalies includes scoliosis or kyphosis (60%), renal disease (35%), sprengel deformity (30%), loss of hearing (30%), synkinesis or mirror movements (20%), facial asymmetry with flattening of neck (20%), congenital heart defects (4-14%), craniofacial malformations & skeletal abnormalities of ear, nose, mouth and larynx (5,7). Most commonly associated congenital heart defect is Ventricular Septal Defect (VSD) (7).…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Klippel Feil Syndrome Type III with Associated Rare Congenital Anomalies: A Rare Case Report

Singh¹,

Gupta²,

Keswani³

et al. 2020

J Clin Case Rep Med Res

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Klippel Feil Syndrome Type III with Associated Rare Congenital Anomalies: A Rare Case Report

Singh¹,

Gupta²,

Keswani³

et al. 2020

J Clin Case Rep Med Res

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“…Se ha demostrado que las mutaciones en los loci del gen GDF3 (cromosoma 12p13.1), GDF6 (cromosoma 8q22.1) y MEOX1 (cromosoma 17q21.31) están relacionadas con el KFS [24][25][26] . En una investigación de Ye M, et al donde se identificó múltiples variantes de sentido erróneo en familias con KFS; al parecer representa uno de los pocos estudios que informa sobre la contribución de proteínas óseas morfogenéticas en individuos heterocigóticos con alteraciones en GDF3 y GDF6 10 .…”

Section: Discussionunclassified

Síndrome de Klippel-Feil autosómico dominante: una malformación de segmentación vertebral

Nauñay¹,

Carvajal²

2019

Rev Chil Pediatr

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El síndrome de Klippel-Feil constituye un desorden esquelético complejo altamente heterogéneo caracterizado por la fusión congénita de dos o más vértebras cervicales. La triada clínica clásica consiste en cuello corto, implantación baja del cabello y limitación para los movimientos del cuello. Las mutaciones asociadas se localizan en los loci del gen GDF3 (cromosoma 12p13.31), GDF6 (cromosoma 8q22.1) y MEOX1 (cromosoma 17q21.31).Objetivo: Describir los hallazgos clínicoradiológicos y genealogía de una paciente con síndrome de Klippel-Feil.Caso clínico: Paciente de 5 años de edad con cuello corto, cabello de implantación baja posterior, limitación para los movimientos de lateralización. La radiografía cervical en flexión y extensión evidenció bloques de fusión entre C1-2-3, C4-5 y C6-7. En la tomografía axial computarizada de tórax se apreció múltiples hemivértebras del tercio superior de las vértebras torácicas correspondientes a las costillas I-IV. El cariotipo fue normal, 46, XX. La penetrancia reducida estuvo presente en cinco de los miembros de la familia. La fusión de C2-3 predominó en cuatro y en un individuo la fusión baja en C5-6. Tres de los cinco individuos afectados tenían fusión entre el hueso grande y ganchoso.Conclusión: La malformación de segmentación vertebral congénita constituye un caso de interés por tratarse de un diagnóstico infrecuente en la edad pediátrica y cuya sospecha puede generarse a partir del examen clínico, estudio de imágenes complementado con la interpretación de la genealogía en los trastornos de herencia mendeliana, permitiendo brindar un oportuno asesoramiento genético a la familia.

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“…Fusion of adjacent vertebrae occurs through the intervertebral disc and can lead to an abnormal angle in the spine ( Figure 5) [16]. In the cervical spine, this segmentation anomaly is referred to as Klippel-Feil syndrome, which is a fusion of two or more vertebrae that often leads to a short neck, low hairline, and limited range of neck motion [17]. This anomaly can cause improper numerical labeling of vertebrae and potential surgery at the wrong level.…”

Section: Block Vertebramentioning

confidence: 99%

Anatomical Variations That Can Lead to Spine Surgery at the Wrong Level: Part I, Cervical Spine

Shah¹,

Halalmeh²,

Sandio³

et al. 2020

Cureus

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Spine surgery at the wrong level is an adversity that many spine surgeons will encounter in their career, and it falls under the wrong-site surgery sentinel events reporting system. The cervical spine is the second most common location in the spine at which surgery is performed at the wrong level. Anatomical variations of the cervical spine are one of the most important incriminating risk factors. These anomalies include craniocervical junction abnormalities, cervical ribs, hemivertebrae, and block/fused vertebrae. In addition, patient characteristics, such as tumors, infection, previous cervical spine surgery, obesity, and osteoporosis, play an important role in the development of cervical surgery at the wrong level. These were described, and several effective techniques to prevent this error were provided. A thorough review of the English-language literature was performed in the database PubMed between 1981 and 2019 to review and summarize these risk factors. Compulsive attention to these factors is essential to ensure patient safety. Therefore, the surgeon must carefully review the patient's anatomy and characteristics through imaging and collaborate with radiologists to reduce the likelihood of performing cervical spine surgery at the wrong level.

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Klippel Feil syndrome – a case report

Cited by 8 publications

References 0 publications

Klippel Feil Syndrome Type III with Associated Rare Congenital Anomalies: A Rare Case Report

Klippel Feil Syndrome Type III with Associated Rare Congenital Anomalies: A Rare Case Report

Síndrome de Klippel-Feil autosómico dominante: una malformación de segmentación vertebral

Anatomical Variations That Can Lead to Spine Surgery at the Wrong Level: Part I, Cervical Spine

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