Síndrome de Wildervanck: reporte de un caso clínico / Wildervanck syndrome: clinical case report

El síndrome de Wildervanck (cérvico-óculo-acústico) es una patología muy rara, caracterizada por la tríada clásica de fusión de vértebras cervicales o anomalía de Klippel-Feil, síndrome de Duane (paresia del VI par craneal) e hipoacusia. Se han descrito, además, otras afecciones a nivel vascular, cardíaco y musculoesquelético. En este caso clínico, describimos a una paciente que cumple la tríada cardinal, además de presentar datos clínicos adicionales que no han sido reportados con anterioridad, lo cual contribuye a la ampliación del fenotipo de la enfermedad. Asimismo, realizamos una revisión de la literatura respecto a este síndrome

Wildervanck syndrome (also known as cervico-oculo-acoustic dysplasia) is a very rare disease, characterized by the typical triad of cervical vertebral fusion or Klippel-Feil anomaly, Duane syndrome (paresis of the sixth cranial nerve), and hearing loss. Other vascular, cardiac, and musculoskeletal conditions have also been described. In this case report, we describe a patient who met the cardinal triad and also presented additional clinical data that have not been previously reported, which contribute to broadening the disease phenotype. We have also reviewed the bibliography related to this syndrome.

Síndrome de Klippel-Feil en un lactante / Klippel-Feil syndrome in an infant

Se presenta el caso clínico de un lactante de 11 meses de edad, quien fue remitido a la consulta de Genética Clínica del Centro Provincial de Genética Médica de la provincia de Holguín, por presentar dismorfias faciales asociadas a retardo motor, cuello corto y disminución de movimientos. Se realizó interrogatorio, examen físico exhaustivo y estudios radiológicos de columna cervical, que mostraron la fusión de vértebras cervicales, lo cual permitió diagnosticar el síndrome de Klippel-Feil. Se proyectó habilitación con ejercicios para fortalecer los músculos paravertebrales y se brindó asesoramiento genético a la familia.

The case report of an 11 months infant is presented, who was referred to the Clinical Genetics Service of the Medical Genetics Provincial Center in Holguín province, due to facial dysmorphias associated with motor retardation, short neck and decreasing movements. Interrogation, exhaustive physical exam and radiological studies of cervical column were carried out that showed the fusion of cervical vertebras, which allowed to diagnose the Klippel-Feil syndrome. A qualification with exercises was projected to strengthen the paravertebral muscles and genetic advice to the family was provided.

Clinical Characteristics and Genetic Analysis of Klippel-Feil Syndrome / 中国医学科学院学报

Objective To summarize clinical characteristics and investigate possible pathogenic gene of Klippel-Feil syndrome(KFS)by the self-designed multigene panel sequencing,so as to decipher the molecular basis for early diagnosis and targeted therapy.Methods From January 2015 to December 2018,we consecutively recruited 25 patients who were diagnosed with KFS in Peking Union Medical College Hospital.The demographic information,clinical manifestations,physical examination and radiological assessments were analyzed.Multigene panel sequencing was performed after DNA extraction from peripheral blood.The possible pathogenic mutations of KFS were explored on the basis of bioinformatics analysis.Results The KFS cohort consisted of 25 patients,including 15 males and 10 females,with a mean age of(12.9±7.3)years.Limited cervical range of motion was the most common clinical feature(12 cases,48%).Based on the Samartzis classification,the proportion of patients suffered from short neck(P=0.031)and limited cervical range of motion(P=0.026)in type Ⅲ KFS was significantly higher than that in type Ⅱ and type Ⅰ KFS.Panel sequencing detected a total of 11 pathogenic missense mutations in eight patients,including COL6A1,COL6A2,CDAN1,GLI3,FLNB,CHRNG,MYH3,POR,and TNXB.There was no pathogenic mutation found in five reported pathogenic genes(GDF6,MEOX1,GDF3,MYO18B and RIPPLY2)associated with KFS.Conclusions Our study has shown that patients with multiple contiguous cervical fusions are more likely to manifest short neck,limited cervical range of motion,and clinical triad.Therefore,these patients need additional attention and follow-up.Our analysis highlights novel KFS-related genetic variants,such as COL6A and CDAN1,extending the spectrum of known mutations contributing to this syndrome and providing a basis for elucidating the pathogenesis of KFS.

A Rare Case of VACTERL Association

Klippel-Feil syndrome (KFS) is a rare skeletal disorder primarily characterized by abnormal union or fusion of two or more cervicalvertebrae. It also includes multiple system anomalies. Herewith, we report a case of 22 years old male who presented withmultiple skeletal anomalies. On subsequent radiological investigations, patient was diagnosed to have Klippel-Feil syndromewith type IV club hand.

Cervical neurenteric cyst: a case report / Cisto neurentérico cervical: relato de caso / Quiste neurentérico cervical: reporte de un caso

ABSTRACT Objective Neurenteric cysts account for 0.7-1.3% of all spinal cord tumors. These rare lesions are composed of heterotopic endodermal tissue. Methods A 26-year-old woman with a 13-month history of severe cervicalgia and brachial paresthesia. Clinically she had mildbilateral brachial paresis (4/5), generalized hyperreflexia and a left Babinski Sign. Past medical history was significant for a cervical fistula closure when she was 1yearold. The superior somatosensory evoked potentials revealed medullary axonal damage with a left predominance. A cervical magnetic resonance imaging of the neck was performed showing a dorsal homogeneous cystic intradural extramedullary lesion with high signal intensity on T2. Computed tomography revealed a Klippel-Feil syndrome. Results A posterior laminectomy and surgical excision were performed without complications. Post-operative follow-up showed a complete recovery of arm strength. The histopathological report confirmed the preoperative diagnosis of neurenteric cyst. Most neurenteric cysts are located in the spine, mainly in a ventral position. A total of 95% of neurenteric cysts are found in the intradural/intramedullary compartment. Symptomatic neurenteric cysts typically appear in the second and third decades of life and are 1.5 to 3 times more common in men. In 50% of the cases, other vertebral malformations have also been reported. In this case, a congenital dorsal enteric cyst and a Klippel-Feil syndrome were observed. Conclusions The intraspinal neurenteric cysts are rare lesions that must be included in the differential diagnosis of a dorsal, intradural cystic structure. The diagnosis may be overlooked, especially in cases of chronic neck pain without neurological deficit. Level of evidence V; Expert Opinion.

RESUMO Objetivo Os cistos neurentéricos são responsáveis por 0.7 a 1.3% de todos os tumores da medula espinhal. Essas lesões raras são compostas por tecido endodérmico heterotópico. Métodos Uma mulher de 26 anos, com história de cervicalgia ao longo da vida, relatou história de 13 meses de piora da cervicalgia e parestesia braquial. Clinicamente, apresentava paresia braquial bilateral leve (4/5), hiperreflexia generalizada e um sinal de Babinski à esquerda. Na história médica pregressa, história de fechamento de fístula cervical com 1 ano de idade. Durante avaliação neurofisiológica, os potenciais evocados somatos-sensitivos superiores revelaram lesão axonal medular com predomínio à esquerda. Na ressonância magnética cervical, foi evidenciada uma lesão extra medular dorsal cística, intradural homogênea hiperintensa em T2. A tomografia computadorizada evidenciou síndrome de Klippel-Feil. Resultados A laminectomia posterior e a excisão cirúrgica foram realizadas sem complicações. O acompanhamento pós-operatório mostrou recuperação completa da força dos braços. O laudo histopatológico confirmou o diagnóstico pré-operatório de cisto neurentérico. A maioria dos cistos neurentéricos est ão localizados na coluna vertebral, principalmente em posição ventral, sendo 95% dos cistos neurentéricos encontrados no compartimento intradural e intramedular. Cistos neurentéricos sintomáticos aparecem tipicamente na segunda e na terceira décadas de vida e são 1,5 a 3 vezes mais comuns no sexo masculino. Em 50% dos casos, eles também foram relatados com outras malformações vertebrais. Neste caso, um cisto entérico dorsal congênito e uma síndrome de Klippel-Feil foram observados. Conclusão O cisto neurent é rico intramedular é uma lesão rara que deve ser conhecida pelo neurocirurgião e incluída no diagnóstico diferencial de lesões císticas intramurais dorsales, pois seu diagnóstico é muitas vezes difícil, especialmente em casos de cervicalgia crônica sem déficits neurológicos. Nível de evidência V; Opinião de Especialista.

RESUMEN Objetivo Los quistes neuroentéricos representan del 0,7 al 1,3% de todos los tumores de la médula espinal. Estas lesiones raras están compuestas de tejido endodérmico heterotópico. Métodos Una mujer de 26 años con cervicalgia severa de 13 meses de evolución acompañada de parestesia braquial. Clínicamente con paresia braquial bilateral leve (4/5), hiperreflexia generalizada y signo de Babinski izquierdo. En los antecedentes de importancia, le realizaron un cierre de una fístula cervical cuando tenía 1 año. Los potenciales evocados somatosensoriales superiores revelaron daño axonal medular con un predominio izquierdo. Se realizó una resonancia magnética cervical evidenciando una lesión ventral extramedular intradural quística homogénea hiperintensa en T2. La tomografía computarizada reveló un síndrome de Klippel-Feil. Resultados Se realizó una laminectomía posterior y resección quirúrgica sin complicaciones. El seguimiento postoperatorio mostró una recuperación completa de la fuerza de los brazos. El informe histopatológico confirmó el diagnóstico preoperatorio de quiste neuroentérico. La mayoría de los quistes neuroentéricos se localizan en la columna vertebral, principalmente en una posición ventral. El 95% de los quistes neuroentéricos se encuentran en el compartimento intradural/intramedular. Los quistes neuroentéricos sintomáticos aparecen típicamente en la segunda y tercera décadas de la vida y son 1.5 a 3 veces más comunes en los hombres. En el 50% de los casos, también se han notificado otras malformaciones vertebrales. En este caso, se observaron un quiste entérico dorsal congénito y un síndrome de Klippel-Feil. Conclusiones Los quistes neuroentéricos intraspinales son lesiones poco frecuentes que deben incluirse en el diagnóstico diferencial de una estructura quística intradural en posición dorsal. El diagnóstico puede pasarse por alto, especialmente en caso de dolor cervical crónico sin déficit neurológico. Nivel de evidencia V; Opinión de Especialista.

Síndrome de Klippel-Feil autosómico dominante: una malformación de segmentación vertebral / Klippel-Feil autosomal dominant syndrome: a malformation of vertebral segmentation

INTRODUCCIÓN: 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 cue llo. 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 clínico- radiológicos 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.

INTRODUCTION: Klippel-Feil syndrome is a highly heterogeneous complex skeletal disorder characterized by the con genital fusion of two or more cervical vertebrae. The classic clinical triad consists of a short neck, low hairline, and neck movements limitation. The associated mutations are located in the loci of the GDF3 gene (chromosome 12pl3.31), GDF6 (chromosome 8q22.1), and MEOXI (chromosome 17q21.31). OBJECTIVE: To describe the clinical-radiological findings and pedigree of a patient with Klippel-Feil syndrome. CLINICAL CASE: A 5-year-old patient with short neck, low posterior hairline, and limitation of lateral movements. The cervical flexion and extension radiographs showed fusion blocks between C1-2-3, C4-5, and C6-7. The chest CT scan showed multiple hemivertebrae in the upper third of the thoracic vertebrae corresponding to ribs 1-tv. The karyotype was normal, 46, XX. Reduced penetrance was present in five of the family members. The fusion of C2-3 was present in four members and one individual had low fusion in C5-6. Three of the five affected individuals had a fusion between the capitate and the hamate bone. CONCLUSION: The malformation of congenital vertebral segmentation is a case of interest since it is an uncommon diagnosis in the pediatric age and whose clinical suspicion can be generated from the clinical examination, radiological study com plemented with the pedigree interpretation in Mendelian inheritance disorders, allowing to provide opportunely genetic counseling to the family.

Anesthesia for elective bilateral sagittal slip osteotomy of the mandible and genioplasty in a young man with Klippel-Feil syndrome, Sprengel deformity, and mandibular prognathism

Klippel-Feil syndrome is characterized by congenital fusion of two or more cervical vertebrae, a low hair line at the back of the head, restricted neck mobility, and other congenital anomalies. We report a 16-year-old young man with Klippel-Feil syndrome, Sprengel deformity of the right scapula, thoracic kyphoscoliosis, and mandibular prognathism with an anterior open bite. He was treated with orthodontic treatment and maxillofacial surgery. An anticipated difficult airway due to a short neck with restricted neck movements and extrinsic restrictive lung disease due to severe thoracic kyphoscoliosis increased his anesthesia risk. Due to his deviated nasal septum and contralateral inferior turbinate hypertrophy, we chose awake fiber optic orotracheal intubation followed by submental intubation. Considering the cervical vertebral fusion, he was carefully positioned during surgery to avoid potential spinal injury. He recovered well and his postoperative course was uneventful.

Síndrome de Klippel-Feil: a propósito de un caso en Ecuador / Klippel-Feil syndrome: about a case in Ecuador

El síndrome de Klippel-Feil (KFS) es un grupo heterogéneo de malformaciones a nivel vertebral que presentan un componente genético monogénico; se caracteriza por presentar un defecto en la formación o segmentación de las vértebras cervicales, que da como resultado una apariencia fusionada. La tríada clínica consiste en un cuello corto, una línea de implantación baja del cabello y un movimiento limitado del cuello. Presentamos el caso de un paciente masculino de 17 años que manifiesta los hallazgos clínicos y radiológicos de esta anomalía. (AU)

Klippel-Feil syndrome (KFS) is a heterogeneous group of vertebral malformations that presents a monogenic genetic component, characterized by a defect in the formation or segmentation of the cervical vertebrae, which results in a fused appearance. The clinical triad consists of a short neck, a low hairline and a limited movement of the neck. We present the case of a 17 year-old male patient who presented the clinical and radiological findings of this anomaly. (AU)

Endotracheal Intubation Using McGrath Videolaryngoscope in Klippel-Feil Syndrome / 이화의대지

Patients with Klippel-Feil syndrome require much attention during anesthesia because of congenital abnormalities in head and neck regions and the high probability of neurological damage from cervical spine instability during endotracheal intubation. We report a case of successful endotracheal intubation using a videolaryngoscope in a patient with Klippel-Feil syndrome who experienced difficult transnasal intubation.

Analysis of clinical diagnosis and treatment in patients with microtia in Klippel-Feil syndrome / 中华整形外科杂志

Objective@#To analyze the clinical features and diagnostic and therapeutic procedure of microtia in Klippel-Feil syndrome(KFS), and to summarize the experiences on diagnosis and treatment of this kind of rare disease to avoid misdiagnosing.@*Methods@#Between May 2014 and July 2015, six patients with microtia were diagnosed with suspected cervical vertebral malformation through physical examination and X-ray. Then they underwent additional examinations to evaluate the degree of deformities and relative risks: pure tone test, chest CT, cervical spine CT, temporal CT, echocardiography and ultrasonic on kidney and ureters. Ear reconstruction was performed with soft tissue skin expander and autogenous rib cartilage framework.@*Results@#The six patients were diagnosed as KFS with microtia, which had different degree of cervical fusion and thoracic vertebral fusion. Some of them had rib deformity, scoliosis, congenital renal malformation and so on. Of 6 patients, scar formation occurred in 1 case after ear reconstruction, whose new ears had good position and appearance at 1 month after stage II. After operation, 6 cases were followed up for 8-20 months (median, 12 months), none of them had nerve injury. Five cases had completed the third stage. All of them were well-healed after one month. Three cases were followed up for 3-11 months, the reconstructed ears had a three-dimensional configuration, and the cranioauricular angle of the reconstructed ears were similar to the opposite ears.@*Conclusions@#The primary step of comprehensive therapy in microtia with KFS is to diagnose definitely. Enhancing perioperative management can reduce surgery-related risks. It is ought to pay attention to nerve injury in a long-term follow-up.

Síndrome de Klippel-Feil con fistula traqueoesofagica, pulgar bifido y angiolipoma cerebral / Klippel-Feil syndrome with tracheoesophageal fistula, bifid thumb and cerebral angiolipoma

El síndrome de Klippel-Feil es una malformación congénita de la charnela cráneo-cervical compleja que involucra vértebras y visceras, caracterizada por la tríada clásica de cuello corto, limitación de movimientos de la cabeza por la fusión de vértebras cervicales e implantación baja del cabello en la región occipital. Se presenta por falla de segmentación en el esqueleto axial del embrión. Su incidencia se estima en 1/40 000-42 000nacimientos y predomina en el sexo femenino. El objetivo del presente trabajo es describir el cuadro clínico de un paciente con síndrome de Klippel-Feil y múltiples malformaciones asociadas, entre ellas, fístula traqueoesofágica, pulgar bífido y lipomas/angiolipomas intracraneales, las cuales, hasta ahora, no han sido descritas en el síndrome, por lo que se considera un hallazgo excepcional.

The Klippel-Feil syndrome is a congenital malformation of the skull flap involving complex cervical vertebrae and organs, characterized by a classic triad: short neck, limitation of movement of the head due to cervical spine fusion and low hairline in occipital region. It results from an error in the axial skeleton segmentation of the embryo; its incidence is estimated at 1/40,000-42,000 births and predominates in females. The aim of this paper is to describe the clinical picture of a patient with Klippel-Feil syndrome and multiple malformations, including tracheoesophageal fistula, bifid thumb and intracranial lipomas/angiolipomas,that have not been previously described in the syndrome, so it is considered an exceptional finding.

A Case of Anomalous Origin and Course of Vertebral Artery in a Patient with Klippel Feil Syndrome

Patients with Klippel-Feil syndrome (KFS) have an increased incidence of vascular anomalies as well as vertebral artery (VA) anomalies. In this article, we presented imaging findings of a 15-year-old female patient with KFS with a rare association of extraforaminal cranially ascending right VA that originated from the ipsilateral carotid bulb. Trifurcation of the carotid bulb with VA is a very unusual variation and to the best of our knowledge, right-sided one has not been reported in the literature.

Anaesthetic Considerations in a Patient with Klippelfeil Syndrome Undergoing Occipito Cervical Fixation

A rare case with Klippel-Feil syndrome with a classic triad having short neck, low posterior hair line and restricted motion of neck because of fused cervical vertebrae was scheduled for occipito cervical fixation, foramen magnum decompression, fusion with local bones and cervical traction. We present the anaesthetic management of this patient highlighting the various anomalies associated with Klippel-Feil syndrome and the presence of a difficult airway.

Two Cases of Klippel-Feil Syndrome with Cervical Myelopathy Successfully Treated by Simple Decompression without Fixation

Klippel-Feil syndrome (KFS) is a congenital developmental disorder of cervical spine, showing short neck with restricted neck motion, low hairline, and high thoracic cage due to multilevel cervical fusion. Radiculopathy or myelopathy can be accompanied. There were 2 patients who were diagnosed as KFS with exhibited radiological and physical characteristics. Both patients had stenosis and cord compression at C1 level due to anterior displacement of C1 posterior arch secondary to kyphotic deformity of upper cervical spine, which has been usually indicative to craniocervical fixation. One patient was referred due to quadriparesis detected after surgery for aortic arch aneurysmal dilatation. The other patient was referred to us due to paraparesis and radiating pain in all extremities developed during gynecological examinations. Decompressive C1 laminectomy was done for one patient and additional suboccipital craniectomy for the other. No craniocervical fixation was done because there was no spinal instability. Motor power improved immediately after the operation in both patients. Motor functions and spinal stability were well preserved in both patients for 2 years. In KFS patients with myelopathy at the C1 level without C1-2 instability, a favorable outcome could be achieved by a simple decompression without spinal fixation.

Klippel-Feil syndrome: a case report.

Klippel-Feil Syndrome (KFS) is defined as congenital fusion of two or more cervical vertebrae. The most common signs are short neck, low hairline at the back of head and restricted mobility of neck. We report a case of a neonate who presented with complaint of respiratory difficulty and later diagnosed as case of Klippel-Feil syndrome.

Sprengel Deformity with Bilateral Huge Omovertebra / 대한정형외과학회잡지

Sprengel's deformity is characterized by the congenital migration of the scapula superiorly in relation to the thoracic cage. Other congenital anomalies, such as Klippel-Feil syndrome, may occur in combination with Sprengel's deformity. We report on a case of Sprengel's deformity with a huge bilateral omovertebrae, which was combined with the clinical features of Klippel-Feil syndrome, including cervical fusion, short neck, low posterior hairline, and limitation of neck motion. However, no other deformities or functional defects were observed.

Fiberoptic intubation through a laryngeal mask airway as a management of difficult airwary due to the fusion of the entire cervical spine: A report of two cases / 대한마취과학회지

Patients with cervical spine instability and limited range of motion are challenge to anesthesiologists. It is important to consider alternatetive methods for securing the airway while maintaining neutral position and minimizing neck motion, because these patients are at increased risk for tracheal intubation failure and neurologic injury during airway management or position change. We experienced two cases that patients had cervical spine instability and severe limited range of motion due to the fusion of the entire cervical spine. One patient was a 6-year-old girl weighing 12.7 kg and had Klippel-Feil syndrome with Arnold-Chiari malformation, the other was a 24-year-old female weighing 31 kg and had juvenile rheumatoid arthritis. We successfully performed the intubation by using the fiberoptic intubation though a laryngeal mask airway in these two cases.

Asociación sindromática: Poland, Goldenhar, Moebius, Klippel-Feil: presentación de un caso clínico / Poland, Goldenhar, Moebius, Klippel-Feil syndrome: a clinical case

Poland Syndrome is a congenital defect characterized by a unilateral absence of the clavicular and stem costal portion of the pectoral muscles associated to abnormalities of other muscles of the thoracic wall, ribs, breast and upper extremity. It is found in one of 20 to 32 thousand newborns. It is found sometimes associated to other syndromes, most often with Moebius Syndrome, and rarely with Goldenhar and Klippel-Feil. Due to the association, a common pathogenic cause has been postulated, that being an anomaly of vascularization during embryonic development. Clinical Case: A newborn male was seen who presented with Poland, Goldenhar, Moebius and Klippel-Feil Syndromes. Clinically, he presented left hemi facial microsomy, microtia, shortening and paralysis of the facial nerve; his neck was short and movement was limited due to C4-C5 fusion; agenesis of left pectorals, hypoplasia of left radius and hand. There were no known additional family cases, being thus, a sporadic syndromatic association.

Introducción: El síndrome de Poland es un defecto muscular congénito, heterogéneo, caracterizado por ausencia unilateral de las porciones clavicular y/o esternocostal del músculo pectoral mayor, que se puede asociar a compromiso de otros músculos de la pared torácica, costillas, mama y extremidad superior. Se presenta con una frecuencia entre 1/20 000 al/32 000 nacidos. El síndrome de Poland se presenta en algunas ocasiones asociado a otros síndromes, siendo clásica con el síndrome de Moebius. Excepcionalmente se ha descrito la aparición conjunta con otros síndromes como Goldenhar y Klippel-Feil. Por la relación que existe entre ellos se plantea una patogenia común: anomalía en la vascularización, durante el desarrollo embrionario. Caso Clínico: Paciente de sexo masculino, con asociación sindromática de Poland, Goldenhar, Moebius y Klippel-Feil. Como características clínicas presenta a izquierda microsomia hemifacial, microtia, acortamiento de rama mandibular y parálisis facial; cuello corto y limitación de movimientos por fusión de C4-C5; agenesia del pectoral mayor izquierdo, hipoplasia de radio y mano izquierda. Sin antecedentes familiares, se trataría de un caso esporádico de asociación sindromática.

Síndrome de Turner mosaico 45, X/46, XX/47, XXX asociado al síndrome de Klippel-Feil / Turner's syndrome by mosaicism 45, X/46, XX/47, XXX associated to the Klippel-Feil syndrome

Introducción. El síndrome de Turner se debe a la ausencia o anomalía de un cromosoma X, dando como consecuencia talla baja, disgenesia gonadal y estigmas físicos. Se ha descrito su asociación con otras alteraciones como las enfermedades de origen autoinmune y, en raros casos, coexistiendo con el síndrome de Klippel-Feil. Objetivo: informar el caso de una niña con síndrome de Turner por mosaicismo 45, X/46, XX/47, XXX y en la que coexiste el síndrome de Klippel-Feil. Caso clínico. Paciente femenino con talla baja y estigmas físicos del síndrome de Turner, que presenta limitación para los movimientos de rotación del cuello y adopta una posición obligada de inclinación lateral derecha de su cráneo. El cariotipo mostró un complemento cromosómico 45, X/46, XX/47, XXX; radiológicamente se observó fusión de la primera a la quinta vértebras cervicales y fusión vertebral de la séptima cervical con la primera torácica. Conclusión. Pudiera representar el primer caso de síndrome de Turner con esta variedad citogenética asociada al síndrome de Klippel-Feil.

Introduction. Turner's syndrome is due to the absence or anomaly of an X chromosome, resulting in short stature, gonadal dysgenesis and various physical characteristics. The association of this syndrome with other alterations such as autoimmune diseases has been described and, in rare cases, coexists with Klippel-Feil syndrome. We undertook this study to report the case of a female with Turner's syndrome with mosaicism (45,X/46,XX/ 47,XXX) with the coexistence of Klippel-Feil syndrome. Case report. We present the case of a female patient with short stature and physical characteristics of Turner's syndrome. The patient presented with limitations of neck movement with a forced position to the right side of her skull. Karyotype showed a chromosomal complement (45,X/46,XX/47,XXX). Radiologically, fusion of the first and fifth cervical vertebrae and vertebral fusion of the seventh cervical vertebra with the first thoracic vertebra were observed. Conclusion. This may represent the first case of Turner's syndrome associated with a cytogenetic variety of Klippel-Feil syndrome.

Síndrome de Wildervanck (Síndrome cérvico-óculo-acústica): [relato de caso] / Wildervanck syndrome: [case report]

O artigo relata o caso clínico de uma criança do sexo feminino, cinco anos de idade que apresenta a rara síndrome de Wilderwanck que consiste da síndrome de Klippel-Feil associada à síndrome de Duane e deficiência auditiva. O exame revelou alterações marcadas da coluna cervical, limitação bilateral da abdução, limitação da adução do olho direito associada à enoftalmia, diminuição da fenda palpebral, anisotropia em A, esotropia nas lateroversões e hipoacusia auditiva neurosensorial bilateral. Nossa paciente revelou a associação de síndrome de Klippel-Feil do tipo II com síndrome de Duane bilateral.

This article reports a case of a female five years old child with rare syndrome of Wilderwanck wich consists in a association of KlippelFeil syndrome and Duane syndrome and auditive hypoacusia. Ocular examination reveals alterations of cervical column, bilateral abduction limitations, aduction limitation of right eye associated with enophthalmos, palpebral fissure decrease, anisotropia in A, lateroversions esotropia and bilateral neurosensorial auditive hypoacusia. Our patient reveal an association of Klippel-Feil Syndrome type II with bilateral Duane Syndrome.