Cervical Rib Synostosis to the First Rib: A Rare Anatomic Variation.

BACKGROUND: Congenital anatomic variations exist in human anatomy, which create both diagnostic and treatment challenges. Understanding the osteologic and radiographic anatomy of supernumerary ribs arising from the cervical spine and recognizing the morphologic variations thereof is of great importance to clinicians, radiologists, and surgeons alike. CASE DESCRIPTION: This case study describes osteologic morphology and radiologic characteristics of a rare anatomic variant of a cervical rib (CR): a unilateral, right-sided CR synostosis to the first thoracic rib of a 50-year-old South African man of African ancestry. The characteristic features included increased angulation, widening of the body, and shortening of the length of the right-sided first thoracic rib. The synostosis of the CR shaft was at the level of the angle of the first thoracic rib. The widest aspect of the first thoracic rib was close to the site of fusion, namely the angle, with the mediolateral length approximately 34.51 mm. This is in contrast to the contralateral first thoracic rib measuring, at its widest, 26.39 mm. The CR was located approximately 3.34 mm superiorly to the first thoracic rib at the cervical articular facet. The CR presented with a well-defined head, which is small and rounded with the inclusion of an articular facet. Thereafter, it presented with a short neck, just over half the length of the inferiorly placed first thoracic rib, and a similar sized articulating facet at the tubercle. The appearance of the trabecular bone pattern on radiographs is in keeping with the contralateral left first rib, although altered in accordance with the gross osteologic appearance described earlier. Furthermore, the radiographs highlight an elliptical lucent-zone within the trabecular bone demonstrating decreased density centrally with a thin rim of sclerotic cortical bone peripherally. This is consistent with classical rib architecture in cross-section representing the CR shaft site of fusion to the first thoracic rib. The CR synostosis to the first thoracic rib represents a novel complex, termed by the authors as a cervicothoracic rib complex. CONCLUSION: The present report refers to the osteologic and radiographic description and comparison of a unilateral, right-sided CR synostosis to a first thoracic rib. The clinical implications of CRs may consist of neurologic, vascular complications, and functional deficits of the involved limb associated with thoracic outlet syndrome (TOS). A CR synostosis to the first thoracic rib represents an associated increased risk of vascular injury, with poorer operative outcomes associated with TOS. This case study is of particular importance to vascular surgeons and neurosurgeons involved with surgical planning and intervention strategies relating to CRs and TOS.

Cervical ribs and other abnormalities of the vertebral pattern in children with esophageal atresia and anorectal malformations.

BACKGROUND: In mammals the vertebral column has a constant pattern, particularly in the cervical region, which is likely the result of stabilizing selection. The prevalence of cervical ribs and extended vertebral pattern abnormalities is increased in deceased fetuses and neonates and associated with structural and chromosomal anomalies. The hypothesized close interaction between vertebral patterning and organogenesis in early embryogenesis could be studied in children with esophageal atresia and anorectal malformations by evaluating the radiographs of the vertebral column and the type and number of associated anomalies METHODS: The vertebral pattern of 367 children diagnosed with an esophageal atresia (n = 135), anorectal malformation (n = 215), or both (n = 17) was assessed on radiographs. RESULTS: The vertebral pattern was abnormal in 170/202 (84.2%) children in whom this could be assessed, and cervical ribs were present in 147/335 (43.9%). Extended vertebral pattern abnormalities became more frequent with an increasing number of associated structural abnormalities. Cervical ribs were particularly common in children with chromosomal and genetic abnormalities (18/20, 90.0%). CONCLUSIONS: Cervical ribs are frequent and abnormal vertebral patterns are more extended in the presence of associated anomalies. These findings support the hypothesized selection against vertebral patterning variations and emphasize the relevance of assessment of the vertebral pattern.

Increased prevalence of abnormal vertebral patterning in fetuses and neonates with trisomy 21.

PURPOSE: To assess the prevalence of an abnormal number of ribs in a cohort of fetuses and neonates with trisomy 21 and compare this with a subgroup of fetuses without anomalies. MATERIALS AND METHODS: Radiographs of 67 deceased fetuses, neonates, and infants that were diagnosed with trisomy 21 were reviewed. Terminations of pregnancy were included. The control group was composed of 107 deceased fetuses, neonates, and infants without known chromosomal abnormalities, structural malformations, infections or placental pathology. Cases in which the number of thoracic ribs or presence of cervical ribs could not be reliably assessed were excluded. The literature concerning vertebral patterning in trisomy 21 cases and healthy subjects was reviewed. RESULTS: Absent or rudimentary 12th thoracic ribs were found in 26/54 (48.1%) cases with trisomy 21 and cervical ribs were present in 27/47 (57.4%) cases. This prevalence was significantly higher compared to controls (28/100, 28.0%, Χ2(1) = 6.252, p = .012 and 28/97, 28.9%, Χ2(1) = 10.955, p < .001, respectively). CONCLUSIONS: Rudimentary or absent 12th thoracic ribs and cervical ribs are significantly more prevalent in deceased fetuses and infants with trisomy 21.

Functional Results of Cervical Rib Resection for Thoracic Outlet Syndrome: Impact on Professional Activity.

BACKGROUND: The aim of this study is to report long-term functional results following cervical rib (CR) resection for thoracic outlet syndrome (TOS). METHODS: This monocentric study included all cases of resection of CR for TOS performed between January 2004 and December 2016. Data were retrospectively collected from the hospital electronic database including preoperative symptoms and the evaluation of occupational well-being, intraoperative data, and early clinical evaluation and occupational well-being during the postoperative period. Patients were categorized as neurogenic TOS (NTOS), arterial TOS (ATOS), arterial and neurogenic TOS (ANTOS), venous TOS (VTOS), or asymptomatic according to preoperative evaluation. We evaluated the improvement in work life between the preoperative and the postoperative period. Further assessment was a negative Roos or elevated arm stress test (EAST) during the postoperative period. RESULTS: Thirty-three patients with a median age of 38.5 years (30-46) were included. Thirty-six procedures were performed: 33% to treat ATOS (12/36), 39% for NTOS (14/36), 19% for ANTOS (7/36), 3% for VTOS (1/36), and 6% (2/36) for asymptomatic lesions. There were 9 cases of subclavian artery aneurysms leading to additional arterial repair. Due to distal embolization, a cervical sympathectomy was associated in 5 procedures. First rib resection was associated in 4 procedures (11%) and C7 transverse process resection was performed in 15 procedures (42%). The technical success rate was 100% and intraoperative complications were observed in 4 patients (11%) with favorable postoperative outcomes. During the early postoperative period, 3 Claude Bernard-Horner's syndrome and 1 asymptomatic subclavian dissection were detected. Late complications included 2 bypass thromboses (6%) at 6 weeks and 16 months. Postoperative EAST improved in 16 limbs (44%). Prior to the procedure, only 27% (9/33) patients had normal work lives. After the procedure, 64% (21/33) of patients were able to return to their normal work activity. CONCLUSIONS: CR resection for TOS seems to be a safe procedure leading to good short- and long-term clinical results with a favorable impact on recovering a normal work life in these young patients.

Transaxillary decompression of thoracic outlet syndrome patients presenting with cervical ribs.

OBJECTIVE: The transaxillary approach to thoracic outlet decompression in the presence of cervical ribs offers the advantage of less manipulation of the brachial plexus and associated nerves. This may result in reduced incidence of perioperative complications, such as nerve injuries. Our objective was to report contemporary data for a series of patients with thoracic outlet syndrome (TOS) and cervical ribs managed through a transaxillary approach. METHODS: We reviewed a prospectively maintained database for all consecutive patients who underwent surgery for TOS and who had a cervical rib. Symptoms, preoperative evaluation, surgical details, complications, and postoperative outcomes form the basis of this report. RESULTS: Between 1997 and 2016, there were 818 patients who underwent 1154 procedures for TOS, including 873 rib resections. Of these, 56 patients underwent 70 resections for first and cervical ribs. Cervical ribs were classified according to the Society for Vascular Surgery reporting standards: 25 class 1, 17 class 2, 5 class 3, and 23 class 4. Presentations included neurogenic TOS in 49 patients and arterial TOS in 7. Operative time averaged 141 minutes, blood loss was 47 mL, and hospital stay averaged 2 days. No injuries to the brachial plexus, long thoracic, or thoracodorsal nerves were identified. One patient had partial phrenic nerve dysfunction that resolved. No hematomas, lymph leak, or early rehospitalizations occurred. Average follow-up was 591 days. Complete resolution or minimal symptoms were noted in 52 (92.8%) patients postoperatively. Significant residual symptoms requiring ongoing evaluation or pain management were noted in four (7.1%) at last follow-up. Somatic pain scores were reduced from 6.9 (preoperatively) to 1.3 (at last visit). Standardized evaluation using shortened Disabilities of the Arm, Shoulder, and Hand scores indicated improvement from 60.4 (preoperatively) to 31.3 (at last visit). CONCLUSIONS: This series of transaxillary cervical and first rib resections demonstrates excellent clinical outcomes with minimal morbidity. The presence of cervical ribs, a positive response to scalene muscle block, and abnormalities on electrodiagnostic testing are reliable indicators for surgery. A cervical rib in a patient with TOS suggests that there is excellent potential for improvement after first and cervical rib excision.

[Neurologic thoracic outlet syndrome in children: about a case]. / Syndrome du défilé thoraco-brachial neurologique chez l'enfant: à propos d'un cas.

Thoracic Outlet Syndrome (NTOS) encloses the whole set of clinical manifestations associated with the compression of the trunks of the brachial plexus and/or of the subclavian vessels as they cross the thoracic outlet (cervico-thoraco-brachial junction). It rarely affects children. We here report the case of a young girl treated for neurologic NTOS caused by supernumerary cervical rib.

Bilateral cervical ribs in a mixed breed dog.

A 4-year-old intact female, mixed breed dog was presented with a complaint of dyspnea. Clinical examination revealed symptoms related to disease of the upper airways. Radiographic findings were consistent with tracheal collapse associated with anomalies involving the seventh cervical vertebra and the first ribs bilaterally. Radiographs were highly suggestive of cervical ribs; computed tomography and ultrasound examination allowed complete characterization and better localization of the anomalies with relationship to the adjacent muscle and vasculature. Cervical ribs are malformations widely described in human medicine, but only sporadically in dogs. Herein, we discuss etiological, clinical, diagnostic and therapeutic aspects of cervical ribs and possible correlations between the cervical ribs and other anatomical anomalies noted in this dog.

The Epidemiological, Morphological, and Clinical Aspects of the Cervical Ribs in Humans.

A familiarity with the anatomy of some types of bone anomalies is necessary for clinicians involved in many medical areas. The aim of this paper is to review the newest literature concerning the morphology, embryology, clinical image, and therapeutic methods of the cervical ribs in the humans. The incidence of cervical ribs has been found to vary from 0.58% in Malaysian population to 6.2% in Turkish population. Cervical ribs have clinical implications that are generally divided into neurological or vascular. This study is of particular importance for clinicians, as early identification of cervical ribs may prevent life-threatening complications.

Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study / Características clínicas e citogenéticas de uma amostra brasileira de pacientes com fenótipo de espectro óculo-aurículo-vertebral: um estudo transversal

CONTEXT AND OBJECTIVE: Oculo-auriculo-vertebral spectrum (OAVS) is considered to be a defect of embryogenesis involving structures originating from the first branchial arches. Our objective was to describe the clinical and cytogenetic findings from a sample of patients with the phenotype of OAVS. DESIGN AND SETTING: Cross-sectional study in a referral hospital in southern Brazil. METHODS: The sample consisted of 23 patients who presented clinical findings in at least two of these four areas: orocraniofacial, ocular, auricular and vertebral. The patients underwent a clinical protocol and cytogenetic evaluation through high-resolution karyotyping, fluorescence in situ hybridization for 5p and 22q11 microdeletions and investigation of chromosomal instability for Fanconi anemia. RESULTS: Cytogenetic abnormalities were observed in three cases (13%) and consisted of: 47,XX,+mar; mos 47,XX,+mar/46,XX; and 46,XX,t(6;10)(q13; q24). We observed cases of OAVS with histories of gestational exposition to fluoxetine, retinoic acid and crack. One of our patients was a discordant monozygotic twin who had shown asymmetrical growth restriction during pregnancy. Our patients with OAVS were characterized by a broad clinical spectrum and some presented atypical findings such as lower-limb reduction defect and a tumor in the right arm, suggestive of hemangioma/lymphangioma. CONCLUSIONS: We found a wide range of clinical characteristics among the patients with OAVS. Different chromosomal abnormalities and gestational expositions were also observed. Thus, our findings highlight the heterogeneity of the etiology of OAVS and the importance of these factors in the clinical and cytogenetic evaluation of these patients. .

CONTEXTO E OBJETIVO: O espectro oculoauriculovertebral (EOAV) é considerado um defeito de embriogênese envolvendo estruturas originadas a partir dos primeiros arcos branquiais. Nosso objetivo foi descrever os achados clínicos e citogenéticos de uma amostra de pacientes com fenótipo de EOAV. TIPO DE ESTUDO E LOCAL: Estudo transversal em um hospital de referência no sul do Brasil. MÉTODOS: A amostra foi composta de 23 pacientes que apresentaram achados clínicos em pelo menos duas das quatro áreas: orocraniofacial, oculares, auriculares e vertebrais. Os pacientes foram submetidos a um protocolo clínico e avaliação citogenética através do cariótipo de alta resolução, hibridização in situ fluorescente para as microdeleções 5p e 22q11 e pesquisa de instabilidade cromossômica para anemia de Fanconi. RESULTADOS: Alterações citogenéticas foram observadas em três casos (13%) e consistiam de: 47,XX,+mar; mos 47,XX,+mar/46,XX e 46,XX,t(6;10)(q13;q24). Observamos casos de EOAV com história de exposição gestacional à fluoxetina, ácido retinoico e crack. Um dos nossos pacientes foi um gêmeo monozigótico discordante que teve restrição de crescimento assimétrica durante a gravidez. Nossos pacientes com EOAV foram caracterizados por um amplo espectro clínico e alguns apresentaram achados clínicos atípicos como um defeito de redução de membro inferior e um tumor do braço direito, sugestivo de hemangioma/linfangioma. CONCLUSÕES: Verificamos grande variedade de características clínicas entre os pacientes com EOAV. Também foram observadas diferentes anomalias cromossômicas e exposições gestacionais. Assim, nossos achados salientam a heterogeneidade da etiologia do EOAV e a importância desses fatores na avaliação clínica e citogenética desses pacientes. .

Bilateral cervical ribs causing cerebellar stroke and arterial thoracic outlet syndrome: a case report and review of the literature.

Stroke is an exceedingly rare presentation of arterial thoracic outlet syndrome (aTOS). This report describes a case of cerebellar stroke secondary to aTOS and reviews the literature. A 56-year-old woman with no previous history of stroke or arm ischemia presented with vertigo. Computed tomography (CT) and magnetic resonance imaging confirmed a left cerebellar ischemic stroke. She subsequently developed ischemia of her left arm, which was treated by a thromboembolectomy. CT angiography revealed bilateral cervical ribs along with bilateral subclavian artery aneurysms. Staged resection of the cervical ribs and reconstruction of the subclavian arteries were performed. Symptomatic arterial thoracic outlet syndrome most commonly presents as arm ischemia because of embolization of intramural clot from a subclavian artery aneurysm or because of thrombosis of the subclavian artery aneurysm itself. In rare cases, the clot can propagate retrograde, resulting in stroke. In young patients presenting with ischemic stroke, arterial thoracic outlet syndrome should be considered as part of the differential diagnosis.

Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study.

CONTEXT AND OBJECTIVE: Oculo-auriculo-vertebral spectrum (OAVS) is considered to be a defect of embryogenesis involving structures originating from the first branchial arches. Our objective was to describe the clinical and cytogenetic findings from a sample of patients with the phenotype of OAVS. DESIGN AND SETTING: Cross-sectional study in a referral hospital in southern Brazil. METHODS: The sample consisted of 23 patients who presented clinical findings in at least two of these four areas: orocraniofacial, ocular, auricular and vertebral. The patients underwent a clinical protocol and cytogenetic evaluation through high-resolution karyotyping, fluorescence in situ hybridization for 5p and 22q11 microdeletions and investigation of chromosomal instability for Fanconi anemia. RESULTS: Cytogenetic abnormalities were observed in three cases (13%) and consisted of: 47,XX,+mar; mos 47,XX,+mar/46,XX; and 46,XX,t(6;10)(q13; q24). We observed cases of OAVS with histories of gestational exposition to fluoxetine, retinoic acid and crack. One of our patients was a discordant monozygotic twin who had shown asymmetrical growth restriction during pregnancy. Our patients with OAVS were characterized by a broad clinical spectrum and some presented atypical findings such as lower-limb reduction defect and a tumor in the right arm, suggestive of hemangioma/lymphangioma. CONCLUSIONS: We found a wide range of clinical characteristics among the patients with OAVS. Different chromosomal abnormalities and gestational expositions were also observed. Thus, our findings highlight the heterogeneity of the etiology of OAVS and the importance of these factors in the clinical and cytogenetic evaluation of these patients.

The rare case of cervical rib fusion to the second rib.

This article reports on 3 patients who presented with arterial thoracic outlet syndrome and were found to have a rare clinical entity. All 3 patients presented with a rare cervical rib, which was also found to be fused to the second rib, with no first rib at all. All underwent transaxillary cervical and second rib resections and anterior scalenectomy. After transaxillary thoracic outlet decompression, all completed physical therapy with complete resolution of symptoms.

Relevance of bone anomalies in patients with thoracic outlet syndrome.

BACKGROUND: Skeletal anomalies are recognized as potential causes of thoracic outlet syndrome (TOS); however, there is a paucity of information regarding the specific bone anomalies associated with TOS and their relative incidence among the different clinical types of TOS. This study describes the prevalence of bone anomalies in a population with TOS. METHODS: A retrospective chart review of the clinical records and imaging studies of all patients who were surgically treated at our institution for TOS between 1991-2011 was conducted. A descriptive analysis of the cohort of patients with associated bone anomalies was performed and compared with the cohort of patients without bone anomalies. RESULTS: During the study period, 400 patients underwent operative procedures for TOS. Of these, 115 (29%) harbored a bone anomaly and the remaining 285 did not. The bone anomalies included 80 (69%) cervical ribs, 25 (22%) clavicular anomalies, and 10 (9%) isolated first rib aberrations. Ninety (78%) of the bone anomalies were congenital, while 25 (22%) were posttraumatic. The bone anomaly cohort was predominantly female (76%), with an average age of 36 years. The distribution of neurogenic, arterial, and venous types of TOS in the cohort with bone anomalies was 63%, 33%, and 4%, respectively, while it was 51% neurogenic, 11% arterial, and 38% venous in the cohort without bone anomalies. These distributions were significantly different (chi-squared: 56.75; P < 0.0001). The likelihood of neurogenic compression was roughly equivalent between the 2 cohorts (odds ratio [OR]: 1.6; P = 0.03), while the likelihood of arterial compression was much higher in the presence of a bone anomaly (OR: 4.0; P < 0.001) and the likelihood of venous compression was much lower in the presence of bone anomaly (OR: 0.07; P < 0.001). Conversely, 33% of all neurogenic TOS cases, 54% of all arterial TOS cases, and 4% of all venous TOS cases were associated with a bone anomaly. CONCLUSIONS: In our experience, the incidence of bone anomalies among patients treated for TOS was 29%, which is higher than previously reported. Cervical ribs were present in 20% of our patients with TOS, an estimated 40 times higher prevalence than that in the general population. However, acquired clavicular deformities and isolated abnormal first ribs were found in 9% of our patients, accounting for almost one-third of all bone anomalies present in this TOS population. The incidence of bone anomalies is rather different among the subtypes of TOS. The strongest association with the presence of a bone anomaly occurs in patients with arterial TOS, although 46% of all our arterial TOS cases did not have a bone anomaly. The presence of bone anomalies does not seem to influence the occurrence of neurogenic TOS, while venous TOS likely has no association with congenital bone anomalies, but occasionally mid and medial clavicular fracture calluses may cause venous TOS.

The significance of cervical ribs in thoracic outlet syndrome.

OBJECTIVE: The purpose of this study was to review our operative experience in patients with thoracic outlet syndrome (TOS) resulting from cervical ribs causing clinical symptoms. METHODS: This study is a retrospective review of a prospectively acquired database of patients with TOS treated with first rib resection and scalenectomy with or without cervical rib resection at the Johns Hopkins Medical Institutions. RESULTS: Between October 2003 and June 2011, a total of 23 cervical rib resections were performed on 20 patients, three of whom had bilateral cervical ribs resected during separate operations. Seven patients presented with subclavian artery thrombosis. Three of seven patients had subclavian artery aneurysms and underwent cervical rib resection through a supraclavicular approach to facilitate subclavian artery bypass. Five patients presented with an ischemic upper extremity without thrombosis and underwent transaxillary first rib and cervical rib resection. Three patients presented with subclavian vein thrombosis; two of the three patients underwent balloon dilation 2 weeks postoperatively for stenosis. Additionally, five patients presented with neurogenic TOS evidenced by pain, numbness, and weakness without vascular compromise in the affected arm. Cervical ribs with bony fusion to the first rib were found in 17 of 23 cases (74%). CONCLUSIONS: Cervical ribs causing clinical symptoms are large and frequently fused to the first rib, and can result in aneurysm formation or thrombosis. In our experience, both the cervical rib and the first rib must be removed to relieve arterial compression and can usually be done through a transaxillary approach. Only patients with aneurysms needing arterial reconstruction require resection of the artery from a supraclavicular approach.

[Thoracic outlet syndrome in a child: a rare pediatric diagnosis]. / Syndrome du défilé thoraco-brachial par côte surnuméraire : un diagnostic rare en pédiatrie.

Thoracic outlet syndrome (TOS) is a rare pediatric syndrome and few cases have been reported in the literature. The authors report the case of a 10-year-old boy with generalized arm pain and neck stiffness. The angiocomputed tomography revealed the presence of a TOS caused by an additional cervical rib and stenosis of the sub-clavian artery. The resection of this rib relieved the patient of his pain during a full year following surgery. This case reminds us that children can also be affected by TOS. When a cervical rib causes TOS, a resection is often necessary.