Modified transmanubrial approach for complicated type 1 cervical rib resection requiring subclavian artery reconstruction.

The transmanubrial musculoskeletal sparing approach (TMA) is commonly used for resecting apical lung tumours with vascular involvement. Non-neoplastic conditions which might require surgical exploration of the thoracic outlet include the 'cervical rib', a clinical condition consisting of an additional rib forming above the first rib and growing from the base of the neck just above the clavicle. Type 1 cervical rib-when a complete cervical rib articulates with the first rib or manubrium of the sternum-is the most challenging scenario where the subclavian artery can be damaged by continuous compression due to the narrow space between clavicle, first rib and supernumerary cervical rib, requiring prosthetic reconstruction of the involved tract. Here, we describe a modified TMA in which the incision in the neck is conducted posteriorly to the sternocleidomastoid muscle, thus allowing safe dissection of the superior and middle trunk of the brachial plexus.

Variations in the Number of Vertebrae, Prevalence of Lumbosacral Transitional Vertebra and Prevalence of Cervical Rib Among Surgical Patients With Adolescent Idiopathic Scoliosis: An Analysis of 998 Radiographs.

STUDY DESIGN: Retrospective Study. OBJECTIVE: This study aims to investigate variation in the number of thoracic and lumbar vertebrae, the prevalence of lumbosacral transitional vertebra (LSTV) and the prevalence of cervical ribs among surgical patients with adolescent idiopathic scoliosis (AIS). SUMMARY OF BACKGROUND DATA: Due to variation in the number of thoracic or lumbar vertebrae, inaccurate identification of vertebral levels has been found to be a contributory factor to wrong-level surgery. METHODS: This was a retrospective study on AIS patients who underwent posterior spinal fusion. Demographic and anthropometric data (age, gender, height, weight, and body mass index), radiographic data (Lenke curve type, pre-operative Cobb angle, vertebra numbering of cervical, thoracic, and lumbar spine, presence of LSTV based on the Castellvi classification and the presence of cervical ribs) and clinical data were collected. Data were analysed and reported with mean and standard deviation for quantitative parameters and number and percentage for qualitative parameters. Multinomial logistic regression analyses were performed to identify factors associated with the outcomes of interest. RESULTS: A total of 998 patients met inclusion criteria, of which 135 (13.5%) were males and 863 (86.5%) were females. The vertebrae number varied between 23 to 25 total vertebrae with 24 vertebrae considered as the typical number of vertebrae. The prevalence of atypical number of vertebrae (23 or 25) was 9.8% (98 patients). We found a total of 7 different variations in number of cervical, thoracic, and lumbar vertebrae (7C11T5L, 7C12T4L, 7C11T6L, 7C12T5L, 7C13T4L, 7C12T6L, and 7C13T5L) with 7C12T5L considered as the typical vertebrae variation. The total prevalence of patients with atypical vertebrae variation was 15.5% (155 patients). Cervical ribs were found in 2 (0.2%) patients while LSTV were found in 250 (25.1%) of patients. The odds of 13 thoracic vertebrae were higher in males (OR 5.17; 95% CI: 1.25, 21.39) and the odds of 6 lumbar vertebrae were higher in LSTV (OR 3.93; 95% CI: 2.58, 6.00). CONCLUSION: In this series, we identified a total of 7 different variations in the number of cervical, thoracic, and lumbar vertebrae. The total prevalence of patients with atypical vertebrae variation was 15.5%. LSTV was found in 25.1% of the cohort. It is important to ascertain atypical vertebrae variations rather than the absolute number of vertebrae because variants such as 7C11T6L and 7C13T4L may still have typical numbers of vertebrae in total. However, due to the differences in the number of morphologically thoracic and lumbar vetrebrae, there may still be a risk of inaccurate identification.

Transthoracic Robotic First and Cervical Rib Resection for Thoracic Outlet Syndrome.

INTRODUCTION: Neurogenic thoracic outlet syndrome (TOS) is a musculoskeletal condition in which the brachial plexus is dynamically compressed within the scalene triangle, an anatomic space bordered by the anterior and middle scalene muscles and the first rib. In some cases, an offending cervical rib is present. Traditional surgical approaches to first rib resection and scalenectomy are limited by exposure, require retraction of neurovascular structures, and result in morbidity. METHODS: We describe a novel transthoracic robotic approach to first/cervical rib resection that overcomes these limitations, and we review its early clinical outcomes. RESULTS: Robotic first rib resection (FRR) is crystallized into 12 distinct steps, each with detailed video commentary, and nuances specific to neurogenic and venous TOS cases are provided. Published data supports decreased surgical morbidity of robotic FRR compared with open cases. CONCLUSIONS: Robotic FRR offers advantages over traditional operative approaches including improved exposure and elimination of retraction of neurovascular structures, which result in improved safety.

When Healing Hands Hurt: Epidemiology of Thoracic Outlet Syndrome Among Physicians.

BACKGROUND: Thoracic outlet syndrome (TOS) is an infrequent condition which results in disability in use of upper extremity. While TOS is often associated with manual labor, industrial workers, and accidents, it has not been reported in a physician (MD) population. Given the investment of time and effort in training to become a MD, the impact of TOS may be devastating. Our objective is to report the presentation and outcome of TOS in MDs. METHODS: A prospectively surgical database was reviewed for MDs who sought care of disabling TOS between 1997 and 2022. Demographic, clinical, outcome and pathological data were reviewed. Outcomes were assessed based on Somatic Pain Scale (SPS), Quick Disabilities of Arm, Shoulder and Hand (DASH) scores, and Derkash scores. Results were also assessed based on return to employment. RESULTS: A total of 19 MDs were identified, from 1,687 TOS cases. The group included 13 (63%) men, 6 (31%) women, average age 45 years (range 27-57). Presentations included 1 (5.3%) arterial TOS (ATOS), 9 (47.4%) venous TOS (VTOS), and 9 (47.4) neurogenic TOS (NTOS). All patients were right-handed, and symptomatic side was dominant hand in 7 (37%) patients. Etiologies included repetitive motion injury, athletic injury, and congenital bony abnormalities. Repetitive motion was associated with 3/9 (33%) NTOS. Significant athletic activities were noted in 12 of 19 (63%) MDs, including 8/9 (89%) VTOS and 4/9 (44%) NTOS. Athletic activities associated with VTOS included triathletes (2), rock climbing (1), long distance swimming (2), and weightlifting (3). Of the 9 NTOS cases, 3 were associated with weightlifting and 1 with skiing. Congenital causes included 1 (5%) abnormal first rib and 1 (5%) cervical rib. Time from symptom onset to consultation varied significantly according to diagnosis: ATOS 6 days, VTOS 97 days, and NTOS 2,335 days (P < 0.05). All underwent first rib resection (FRR), and 4 (4) patients required contralateral FRR. Time from surgery to last follow-up averaged 1,005 days (range: 37-4,535 days). On presentation, 6 patients were work disabled and 13 patients were work restricted. Following surgery, 4 MDs remained work restricted with mild to moderate symptoms. After surgery, standardized outcomes (SPS, Quick DASH, and Derkash score) improved in all metrics. All who were initially disabled returned to work without restriction. Significant non-TOS related comorbidities were present in all who had residual restriction. Return to work was documented in all. CONCLUSIONS: Although it has not been reported, MDs are subject to developing TOS. Causes include repetitive motions, athletic injuries, and congenital bony abnormalities. Surgical decompression is beneficial with significant reduction in pain and disability. MDs are highly motivated and insightful; accordingly, they have a very high probability of successful work resumption, with all returning to their medical positions.

Costilla cervical como causa de tumor supraclavicular: revisión sistemática / Cervical rib as a cause of supraclavicular tumour. Systematic review

Introducción y objetivo: El hallazgo de una masa dura supraclavicular conlleva siempre preocupación, porque habitualmente implica un diagnóstico de malignidad. El objetivo de este trabajo ha consistido en examinar las características diferenciales de la presencia de una costilla cervical que, aun siendo una entidad muy poco frecuente, si se sospecha clínicamente, hace posible un diagnóstico inmediato, evitando exploraciones innecesarias y ofreciendo al paciente un pronóstico de benignidad. Método: Se realiza una revisión sistemática sobre el diagnóstico diferencial de las masas duras supraclaviculares, por dos revisores independientes utilizando cinco buscadores académicos distintos. Resultados: De los 96 artículos obtenidos en la búsqueda inicial, se han extraído 14, tras el cribado de los que no cumplían los criterios de inclusión. El enfoque de los trabajos seleccionados fue el diagnóstico diferencial de una costilla cervical en pacientes con una masa dura supraclavicular. Discusión: La solicitud de pruebas complementarias, retrasa un diagnóstico que puede realizarse con una radiografía simple de tórax, evitando al paciente la angustia de un tortuoso camino. Conclusión: En el diagnóstico diferencial de una masa dura supraclavicular, se debe incluir la posibilidad de una costilla cervical. (AU)

Introduction and objective: Discovering a hard supraclavicular mass is a worrisome finding because it usually implies an underlying malignancy. The objective of this work is to illustrate the clinical presentation and characteristics of a cervical rib, because as unusual as this entity may be, suspecting of it offers an immediate diagnosis, avoids unnecessary explorations and presents a benign diagnosis to the patient. Method: A systematic review about the differential diagnosis of hard supraclavicular masses is carried out by two independent revisers using five different academic search engines. Results: From the 96 articles found in the initial search, 14 that matched the inclusion criteria were chosen. The approach of these selected articles was the differential diagnosis of a cervical rib in patients with a hard supraclavicular mass. Discussion: Soliciting complimentary tests delays a diagnosis that can be easily made through a simple thorax radiography, saving the patient from the distress of tortuous pathway. Conclusions: The differential diagnosis of a hard supraclavicular mass should include the possibility of a cervical rib. (AU)

Costilla cervical: tres casos para ilustrar su presentación clínica / Cervical rib: three cases to illustrate its clinical presentation

Introducción y objetivo: La costilla cervical se manifiesta clínicamente como una tumoración de dureza pétrea en la región supraclavicular, que puede sugerir inicialmente malignidad. El objetivo de este trabajo es ilustrar su presentación, para facilitar la sospecha clínica y el diagnóstico, ofreciendo al paciente un pronóstico benigno. Método: Se presentan tres casos clínicos diagnosticados de costilla cervical en el servicio de ORL de nuestro hospital. Discusión: Los datos de la anamnesis, la exploración clínica y una radiografía simple de tórax, deberían ser indicios suficientes, para diferenciar esta entidad de un proceso maligno. Conclusiones En el diagnóstico diferencial de una masa dura supraclavicular, debemos pensar en la posibilidad de una costilla cervical. (AU)

Introduction and objective: A cervical rib clinically manifests as a hard supraclavicular lump, which may initially suggest malignancy. The objective of the present work is to illustrate its presentation, to make the suspicion and diagnosis of it easier and thereby offering the patient a benign diagnosis. Method: We present three clinical cases of cervical rib seen in the ENT service of our hospital. Discussion: Information from the clinical interview and physical exam along with a simple thorax radiography should be sufficient to distinguish this entity from a malignant process. Conclusions: In the differential diagnosis of a hard supraclavicular mass, we should consider the possibility of a cervical rib. (AU)

Prevalence of cervical ribs and elongated transverse processes in Omani population: a computed tomography-based study.

INTRODUCTION: Cervical ribs are the supernumerary ribs that usually arise from the seventh cervical vertebra. Ethnic and geographical variations in cervical ribs and elongated transverse processes have been reported. Therefore, we aimed to study the prevalence of cervical ribs and elongated transverse processes and morphometry of cervical ribs in Omani subjects using computed tomography (CT). METHODS: A total of 1165 consecutive patients' CT scans of the cervical spine who had visited the tertiary care hospital from January 2016 to December 2020 were included in the study. The CT scans were screened for cervical ribs and elongated C7 transverse processes. Fisher's exact test was used to determine the gender influence. RESULTS: Cervical ribs were identified in 0.94% of patients with a male-to-female ratio of 0.37:1. Most cervical ribs were unilateral (54%). The elongated C7 transverse process was identified in 18.45% of patients, with a male-to-female ratio of 1.36:1. Female patients are more likely to have cervical ribs (effect size = 5.98, 95% CI = 1.58-22.6, p = 0.005) than male patients. In contrast, the elongated C7 transverse process is more frequent in males (effect size = 1.82, 95% CI = 1.34-2.47, p < 0.001). The length and width of the cervical ribs are presented. CONCLUSION: The prevalence of cervical ribs in Omani subjects is close to that of accepted prevalence worldwide. However, the elongated C7 transverse process prevalence is comparatively high and close to the Saudi population.

Síndrome del nervio dorsal escapular en un adulto / Dorsalscapular nerve syndrome in an adult

Se presenta el caso clínico de un paciente de 47 años de edad, quien acudió al Servicio de Ortopedia y Traumatología del Hospital Docente Clinicoquirúrgico Joaquín Albarrán de La Habana por presentar dolor en el cuello irradiado al miembro superior izquierdo. En la exploración física se destacó atrofia de los músculos romboides de la escápula izquierda y deformidad alar, acentuada durante la maniobra. Se realizó radiografía y electromiografía; en la primera, se observó costilla cervical supernumeraria izquierda y, en la segunda, lesión del nervio dorsal escapular, por lo cual se diagnosticó síndrome del nervio dorsal escapular secundario a síndrome del escaleno anterior. Se indicó tratamiento fisioterapéutico y el paciente evolucionó satisfactoriamente.

The case report of a 47 years patient is presented, who went to the Orthopedics and Traumatology Service of Joaquín Albarrán Teaching Clinical Surgical Hospital in Havana due to a pain in the neck irradiated to the left superior member. In the physical exploration atrophy of the left scapula romboid muscles and alar deformity were notable, accented during the maneuver. Radiography and electromyography were carried out; in the first one, left supernumerary cervical rib was observed and, in the second one, dorsalscapular nerve leison, reason why the secondary dorsal scapular nerve syndrome to anterior scalene syndrome was diagnosed. Physiotherapeutic treatment was indicated and the patient had a favorable clinical course.

Unique Case of Neurogenic Thoracic Outlet Syndrome with Arterial Compression in Patient with Bilateral Cervical Ribs and Osteochondroma of the Ribs.

Background: Neurogenic thoracic outlet syndrome typically presents with paresthesia, pain, and impaired strength in the neck, shoulder, and arm, and is typically a diagnosis of exclusion. This condition is caused by compression of the brachial plexus, typically by a bony or soft tissue anomaly present congenitally and influenced by repetitive motion or significant trauma. Treatment typically involves removal of the first rib and anterior scalene to decompress the thoracic outlet and relieve stress to the brachial plexus if the patient has failed conservative treatment with physical therapy and lifestyle modifications. Case Presentation: We present a case of neurogenic thoracic outlet syndrome with arterial compression treated surgically via a transaxillary first rib and cervical rib resection in a patient with bilateral cervical ribs and osteochondromas of the ribs.

Role of Botulinum Toxin in Pectoralis Minor Syndrome.

BACKGROUND: Thoracic outlet syndrome (TOS) causes neurogenic symptoms in 95% of the cases due to neurovascular bundle compression. The treatment goal is the decompression of the neurovascular structures. In the last decade, non-surgical treatments have been evaluated as a treatment option for spastic syndromes and thoracic outlet syndrome. In this study we report the use of botulinum toxin (BTX-A) injection as a diagnostic tool to identify the pectoral minor syndrome, and as a less aggressive treatment-option. METHODS: An observational cohort study of patients with neurogenic thoracic outlet syndrome who underwent sonographically guided chemodenervation of pectoral minor muscle with botulinum toxin. Follow-up includes clinical evaluation at one month, 3 months and 6 months after the procedure. Clinical evaluation was made with clinical questionnaire. In case of patients with partial improvement of the symptoms, a second infiltration of BTX-A was performed. The categorical variables were shown as percentages, and the continuous variables as mean and standard deviation (SD). For the comparison of categorical variables, the Fisher's exact test was used. Statistical analysis was performed using the SPSS version 20.0 program. We consider P <0.05 to be statistically significant. RESULTS: A total of twenty-six patients were diagnosed with thoracic outlet syndrome in this period, and 20 accomplished the inclusion criteria. 7 patients were excluded (1 due to neoplasia, 2 did not sign the informed consent, 1 due to neoplasia, 2 did not sign the informed consent, 1 was lost during the follow-up and 3 due to anomalies of the first rib secondary to fractures and cervical rib and 1 was lost during the follow-up), therefore a sample of 13 patients aged between 24 and 55 years was obtained. The most common type of procedure performed was the single injection of 50 IU of botulinum toxin. 4 patients were infiltrated in 2 occasions due to partial improvement in symptoms at 1month follow-up. Clinical stability was found at three months and at 6 months follow-up. CONCLUSION: The ultrasound-guided botulinum injection of the pectoralis minor muscles provides symptoms relief in patients with pectoral minor syndrome, and could be considered a safe tool in the diagnosis of the pectoralis minor syndrome within the spectrum of thoracic operculum syndrome.

Unilateral thoracic outlet syndrome in a case with bilateral cervical ribs, does it always produce compression?

BACKGROUND: The cervical rib can be a rare finding in asymptomatic subjects. When it produces compression, it affects variably the vasculo-nervous structures of the brachial plexus; the clinical history is progressive. The imaging studies indicate the site of osteo-neuro-vascular conflict and electrophysiological studies indicate the degree of neural involvement. CASE REPORT: We present a patient with an eight-month history of paresis and right dysesthesias, with an image of bilateral cervical ribs with different anatomical characteristics. This case discusses how a variant of the anatomy produces pathology and when it is not related to compression.

ANTECEDENTES: La costilla cervical puede ser un raro hallazgo en sujetos asintomáticos. Cuando produce compresión, afecta variablemente a las estructuras vasculonerviosas del plexo braquial. El cuadro clínico es progresivo. Los estudios de imagen indican el sitio de conflicto osteoneurovascular, y los electrofisiológicos, el grado de afección neural. CASO CLÍNICO: Presentamos un paciente con historia de 8 meses de paresia y disestesias derechas, con imagen de costillas cervicales bilaterales con diferentes características anatómicas. Con este caso se discute cómo una variante de la anatomía produce patología y cuando no está relacionada a compresión.

Undiagnosed bilateral complete cervical rib with subclavian artery aneurysm presenting as acute ischaemic limb following high-altitude expedition.

Arterial thoracic outlet syndrome is relatively rare and often exclusively seen in the presence of bony anomalies. High-altitude (HA) travel is commonly associated with thrombosis; however, arterial thromboembolism is less frequently described. We describe a case of a young man with undiagnosed bilateral cervical rib, who went for an HA trek, subsequent to which developed acute limb ischaemia of right arm. Diagnostic workup revealed a subclavian artery aneurysm as well along with complete bony bilateral cervical ribs. Thoracic outlet syndrome should be kept as a differential diagnosis in a case of acute limb ischaemia in a healthy adult.

Contemporary Management of Arterial Thoracic Outlet Syndrome.

BACKGROUND: Arterial thoracic outlet syndrome (aTOS) is characterized by compression of the subclavian artery as it exits the thoracic girdle. Chronic and repetitive compression leads to several degrees of arterial wall damage. The treatment is varied and depends on the presentation severity. This study aimed to describe the contemporary experience in managing arterial thoracic outlet syndrome at a large tertiary hospital. METHODS: We conducted a single-institution retrospective review of aTOS cases from January 2009 to January 2020. Demographic data, clinical presentation, medical images, operative notes, and outcomes were assessed. RESULTS: Thirteen aTOS cases were identified. The mean age was 43 ± 10 years, and 11 (85%) were women. Both sides were equally affected: right (7 cases, 54%) and left (6 cases, 46%). The most common clinical presentation was arm claudication (7 cases, 54%). Other presentations were: acute arm ischemia, pulsatile neck mass and distal embolization. Cervical ribs were identified by plain X-rays in most cases. All patients were submitted to surgical decompression through the supraclavicular approach. Patients with early disease stages were not submitted to arterial reconstruction and were followed with duplex scan. Arterial reconstruction was done in advanced disease stages (5 cases, 38%): end-to-end anastomosis, interposition graft, and bypass graft. The mean follow-up duration was 32,6 ± 25 months. In all patients, the subclavian artery/graft was patent, and the vascular symptoms were entirely resolved. There were no deaths or amputations. CONCLUSIONS: Arterial thoracic outlet syndrome has a varied clinical presentation. Cervical ribs are the most common anatomic abnormalities. The diagnosis was based on history, physical examination, and imaging exams. Surgery consisted of supraclavicular decompression, arterial resection, and vascular reconstruction, according to the disease stage. The outcomes were excellent.

Thoracic outlet syndrome: a rare case with bilateral cervical ribs and bilateral anterior scalene hypertrophy.

Thoracic outlet syndrome (TOS) is a rare neurovascular disorder generally caused by the presence of a cervical rib or hypertrophic scalene anterior muscle that can compress the brachial plexus and/or subclavian vessels. In the vascular form, the symptoms are caused by the compression of the artery and/or the subclavian vein. In the first case, the compression is caused by the cervical rib and leads to hypo-perfusion with cooling and cyanosis of the upper limb, while in the second case, the compression is caused by the anterior scalene muscle and leads to congestion, cyanosis, swelling and pain in the higher limb. In this paper, we describe a case with the simultaneous presence of a bilateral cervical rib and bilateral hypertrophy of the anterior scalene muscle. TOS diagnosis is based on neurological, clinical and instrumental tests, such as chest radiography and color Doppler ultrasonography. The treatment of these patients can be surgical or conservative.

A novel technique for transaxillary resection of fully formed cervical ribs with long-term clinical outcomes.

OBJECTIVE: Although the supraclavicular approach has been widely adopted for cervical rib resection, a transaxillary approach has been favored by many. We have reviewed more than two decades of experience with decompression of the thoracic outlet to treat thoracic outlet syndrome (TOS) in patients with complete cervical ribs using a novel transaxillary approach. METHODS: A prospectively maintained database of patients undergoing surgery for TOS was searched for patients with complete (class 3 and 4) cervical ribs from 1997 to 2019. All these patients had undergone transaxillary resection using a technique in which the cervical and first ribs were separated and then individually resected. The data abstracted included patient demographics, symptoms, surgical details, and complications. The outcomes were contemporaneously assessed clinically and using standardized functional tools: somatic pain scale (SPS) and Quick Disabilities of the Arm, Hand, and Shoulder questionnaire (QuickDASH). The cervical rib data were organized and reported in accordance with the Society for Vascular Surgery reporting standards. RESULTS: During the study period, 1506 patients had undergone surgery for TOS at our institution. Of these 1506 patients, 38 had undergone complete transaxillary resection of 40 fully formed cervical ribs (10 class 3 and 30 class 4). Of these 38 patients, 74% were women. The presentations had been neurogenic (65%), arterial (31%), and venous (5%). The average initial SPS and QuickDASH score was 6.4 and 50, respectively. The duration of surgery averaged 141 minutes, blood loss was 65 mL, and length of stay was 2.1 days. None of the patients had experienced brachial plexus, phrenic, or long thoracic nerve injury. The average follow-up period was 65 months. The final mean postoperative SPS and QuickDASH scores were lower than the scores at presentation (SPS score, 6.4 vs 1.2; P < .001; QuickDASH score, 50 vs 17; P < .001). CONCLUSIONS: To the best of our knowledge, the present study is the largest reported experience of resection of fully formed cervical ribs using a transaxillary approach that allowed for individual dissection and removal of cervical and first rib segments. This technique has proved to be successful, with low morbidity and reliable improvement in patient symptom and disability scores. Based on these reported outcomes, this novel approach to transaxillary resection of fully formed cervical ribs should be considered a safe and effective operation.

Tratamento cirúrgico da forma arterial da síndrome do desfiladeiro torácico associado à costela cervical / Surgical treatment of cervical rib-associated arterial thoracic outlet syndrome

Resumo A forma arterial da síndrome do desfiladeiro torácico é rara e está associada a uma anomalia anatômica, geralmente uma costela cervical. Suas manifestações são muito variadas. Este artigo tem como proposta relatar dois casos de apresentações clínicas distintas: microembolização e aneurisma. Em ambos, uma costela cervical estava presente. O diagnóstico foi realizado através da história, do exame físico, das manobras posturais e das radiografias. A angiotomografia computadorizada proporcionou o detalhe anatômico necessário para o planejamento operatório. O tratamento cirúrgico foi realizado pela abordagem supraclavicular, com sucesso em ambos casos.

Abstract The arterial form of thoracic outlet syndrome is rare and is associated with anatomic anomalies, generally a cervical rib. It has a varied range of manifestations. The aim of this article is to describe two cases with different clinical presentations: microembolization and aneurysm. A cervical rib was present in both cases. Diagnosis was made on the basis of history, physical examination, postural maneuvers, and X-rays. Computed tomography angiography provided the anatomic detail necessary to plan surgery. Surgical treatment was performed via supraclavicular access, successfully, in both cases.

Exploring copy number variants in deceased fetuses and neonates with abnormal vertebral patterns and cervical ribs.

BACKGROUND: Cervical patterning abnormalities are rare in the general population, but one variant, cervical ribs, is particularly common in deceased fetuses and neonates. The discrepancy between the incidence in the general population and early mortality is likely due to indirect selection against cervical ribs. The cause for the co-occurrence of cervical ribs and adverse outcome remains unidentified. Copy number variations resulting in gain or loss of specific genes involved in development and patterning could play a causative role. METHODS: Radiographs of 374 deceased fetuses and infants, including terminations of pregnancies, stillbirths and neonatal deaths, were assessed. Copy number profiles of 265 patients were determined using single nucleotide polymorphism array. RESULTS: 274/374 patients (73.3%) had an abnormal vertebral pattern, which was associated with congenital abnormalities. Cervical ribs were present in 188/374 (50.3%) and were more common in stillbirths (69/128 [53.9%]) and terminations of pregnancies (101/188 [53.7%]), compared to live births (18/58, 31.0%). Large (likely) deleterious copy number variants and aneuploidies were prevalent in these patients. None of the rare copy number variants were recurrent or overlapped with candidate genes for vertebral patterning. CONCLUSIONS: The large variety of copy number variants in deceased fetuses and neonates with similar abnormalities of the vertebral pattern probably reflects the etiological heterogeneity of vertebral patterning abnormalities. This genetic heterogeneity corresponds with the hypothesis that cervical ribs can be regarded as a sign of disruption of critical, highly interactive stages of embryogenesis. The vertebral pattern can probably provide valuable information regarding fetal and neonatal outcome.

Síndrome del opérculo torácico en adolescentes: serie de casos / Thoracic outlet syndrome in adolescents: a case series

OBJETIVO: El síndrome del opérculo torácico (SOT) está causado por una compresión del plexo braquial y vasos subclavios en su paso hacia la extremidad superior. Patología típica de mujeres entre 20 y 50 años, que es infrecuente diagnosticar en niños. Presentamos nuestros resultados en el diagnóstico y tratamiento del SOT pediátrico. MATERIAL Y MÉTODOS: Estudio retrospectivo de pacientes diagnosticados de SOT entre diciembre de 2017 y junio de 2018. Se analizaron variables clínicas, radiológicas, quirúrgicas y de evolución. RESULTADOS: Cinco SOT fueron diagnosticados en cuatro pacientes, uno de ellos bilateral. La edad media al diagnóstico fue de 12,5 años (7-15) y hubo una demora en el diagnóstico de 153 días (10-360). SOT venoso (3) y neurológico (2). Presentaron dolor (5/5), edema (4/5), hipoestesia (3/5), disminución de fuerza (3/5) y dolor cervical (2/5). Una paciente presentaba dolor asociado al deporte. El estudio neurofisiológico fue normal en tres casos. Dos pacientes presentaron anomalías óseas por TAC. Se realizaron tres intervenciones quirúrgicas en dos pacientes por abordaje supraclavicular realizando resección de la primera costilla anómala y escalenectomía. Una paciente rechazó la intervención y en otra se mantuvo en una actitud expectante sin reaparición de los síntomas. Seguimiento posoperatorio de 9 meses (6-12) con mejoría progresivas de los síntomas. CONCLUSIÓN: El SOT puede darse en adolescentes, siendo el dolor y edema de la extremidad superior lo más específico. Se recomienda la realización de pruebas de imagen para detectar estructuras anatómicas anómalas. El abordaje supraclavicular se presenta como una técnica segura y eficaz en la descompresión del desfiladero torácico

OBJECTIVE: Thoracic Outlet Syndrome (TOS) is caused by a compression of the brachial plexus and the subclavian vessels in their passage to the upper limb. It mostly occurs in women aged 20-50, so it is infrequent in children. We present our results in the diagnosis and management of pediatric TOS. MATERIALS AND METHODS: Retrospective study of patients diagnosed with TOS between December 2017 and June 2018. Clinical, radiological, surgical, and evolution variables were assessed. RESULTS: Five TOS were diagnosed in 4 patients - one TOS was bilateral. Mean age at diagnosis was 12.5 years (7-15), and there was a delay in diagnosis of 153 days (10-36). TOS was either venous (3) or neurogenic (2). Patients presented with pain (5/5), edema (4/5), hypoesthesia (3/5), decreased strength (3/5), and cervical pain (2/5). One patient presented with sport-related pain. Neurophysiological study was normal in three cases. Two patients presented bone anomalies at CT-scan. Three surgeries were performed in two patients using the supraclavicular approach with resection of the anomalous first rib and scalenectomy. One patient refused surgery, and another patient remained expectant without reappearance of symptoms. Postoperative follow-up was 9 months (6-12), with progressive improvement of symptoms. CONCLUSIONS: TOS may occur in adolescents in the form of upper limb pain and edema. Imaging tests are recommended to detect abnormal anatomical structures. The supraclavicular approach represents a safe and effective technique in decompressing the thoracic outlet