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)

Reconstruction of congenital pseudarthrosis of the clavicle with a barrel-shaped mono-cortical iliac crest autograft: A case report.

BACKGROUND: Congenital pseudarthrosis of the clavicle (CPC) is a rare congenital entity with unresolved aetiology and pathogenesis. Nearly 250 cases have been reported to date. CPC is characterized by a definite defect in the mid-clavicle at birth and is usually diagnosed when the deformity becomes evident in late childhood or adolescence. Surgical management is controversial, especially in asymptomatic children, with various techniques reported in the literature. CASE REPORT: We report a case of a 6-year-old boy who was diagnosed with CPC during a medical examination for primary school enrollment. Operative treatment included debridement of pseudoarthrosis, internal fixation with third tube plate, and barrel-shaped mono-cortical iliac crest autograft. RESULTS: A complete bone union was obtained 9 months after the operation, and satisfactory function and cosmetic appearance were observed 4 years and 3 months postoperatively. CONCLUSION: In our opinion, reconstruction with barrel-shaped mono-cortical iliac crest autograft was an effective and reproducible surgical technique to treat CPC.

Sternocleidohyoid muscle: an unreported variant of cleidohyoid muscle.

Sternohyoid, sternothyroid, omohyoid, and thyrohyoid muscles are collectively known as infrahyoid muscles. These muscles frequently show variations in their attachments. Here, an extremely rare variant muscle belonging to this group has been presented. During cadaveric dissection for undergraduate medical students, an additional muscle was found between sternohyoid and superior belly of omohyoid muscles bilaterally in a male cadaver aged approximately 70 years. This muscle took its origin from posterior surface of the manubrium sterni, capsule of the sternoclavicular joint and the posterior surface of the medial part of the clavicle. It was inserted to the hyoid bone between the attachments of sternohyoid and superior belly of omohyoid muscles and was supplied by a branch of ansa cervicalis profunda. There is no report on such a muscle in the literature and it could be named as "sternocleidohyoid muscle". Knowledge of this muscle could be useful in neck surgeries.

Surgical treatment of congenital pseudoarthrosis of the clavicle: Our 22-year, single-center experience.

OBJECTIVES: This study reports the surgical outcomes in a patient cohort with congenital pseudarthrosis of the clavicle (CPC). PATIENTS AND METHODS: A total of nine pediatric patients (5 males, 4 females; mean age: 4.43 years; range, 2 to 12 years) who were diagnosed with CPC and treated surgically with a minimum one-year follow-up between January 1996 and December 2018 were retrospectively analyzed. The patients were divided into two groups according to the fixation method as the Kirschner wire (K-wire; Group A, n=2) or stabilization with a plate (Group B, n=7). The physical function and symptoms were evaluated using the Quick Disabilities of the Arm, Shoulder and Hand (QuickDASH) scale. RESULTS: The mean age at the time of diagnosis was 2.95 (range, 0 to 12) years. Six cases were atrophic pseudarthrosis and three cases were hypertrophic. Radiographic consolidation occurred in all cases with a mean duration of 103.8±39.1 days, indicating no significant difference between the groups (p>0.05). Complications registered were a K-wire breakage in a patient in Group A and an internal fixation plate loosening in a patient in Group B. The mean postoperative follow-up was 2.98±1.82 years. The QuickDASH score was 0 points in all patients. CONCLUSION: The early surgical indication based on refreshment of the pseudarthrosis focus, with bone autograft interposition when a failure exists to restore adequate clavicular length, and fixation are reliable alternatives with favorable clinical and radiological results in the mid- and long-term with fewer complications.

Delayed Eruption In Cleidocranial Dysplasia.

Cleidocranial dysplasia is a rare autosomal dominant disorder of bones mainly affecting bones formed by intra-membranous and endochondral ossification. It presents clinically as brachycephalic skull, frontal bossing, depressed nasal bridge, hypertelorism, delayed closure of fontanelles, delayed eruption of permanent teeth, missing clavicles and wide pelvis. It runs in families; sporadic cases are rarer. Just over than 1000 cases have been reported. We are presenting here 2 cases of cleidocranial dysplasia in siblings.

Costoclavicular ligament as a novel cause of venous thoracic outlet syndrome: from anatomic study to clinical application.

PURPOSE: Venous thoracic outlet syndrome (VTOS) is a compressive disorder of subclavian vein (SCV); we aimed to investigate the role of costoclavicular ligament (CCL) in the pathogenesis of VTOS. METHODS: A cadaver study was carried out to investigate the presence and morphology of CCL in thoracic outlet regions, as well as its relationship with the SCV. Six formalin-fixed adult cadavers were included, generating 12 dissections of costoclavicular regions (two sides per cadaver). Once CCL was identified, observation and measurement were made of its morphology and dimensions, and its relationship with SCV was studied. To take a step further, a clinical VTOS case was reported to prove the anatomical findings. RESULTS: Two out of twelve costoclavicular regions (2/12, 16.7%) were found to possess CCLs. Both ligaments were located in the left side of two male cadavers and were closely attached to the lateral aspect of sternoclavicular joint capsules. The lateral fibers of the ligament proceed in a superolateral-to-inferomedial manner, while the medial fibers proceed more vertically. Both ligaments were tightly adherent to the SCV, causing significant compression on the vein. In the clinical case, multiple bunches of CCLs were found to compress the SCV tightly intraoperatively. After removing the ligaments, the patient's symptom kept relief during a follow-up period of 2 years. CONCLUSION: Our study demonstrated that CCL could be a novel cause of VTOS by severe compression of SCV. Patients diagnosed with this etiology could get less invasive surgical treatment by simply removing the ligament.

¿Cuándo pensar en pseudoartrosis congénita de clavícula en pediatría? Presentación de 2 casos / When to think about pediatric congenital pseudoarthrosis of the clavicle? Presentation of 2 cases

La pseudoartrosis congénita de la clavícula es una malformación rara y benigna, caracterizada por la ausencia del tercio medio de la clavícula. Suele ser unilateral y mayoritaria en el lado derecho. La etiología es desconocida y se postulan diversas teorías etiopatogénicas (vascular, embriológica y genética).Puede detectarse en el período neonatal o, más frecuentemente, durante la infancia. En ocasiones, puede ser sintomática. Puede requerir tratamiento mediante reconstrucción quirúrgica por injerto óseo.Se presentan 2 casos, uno de diagnóstico neonatal y otro de 3 años de edad realizados con 24 h de diferencia. Se destaca la consideración de este diagnóstico como diferencial de fractura obstétrica o postraumática, displasia cleidocraneal y neurofibromatosis de tipo 1.

The congenital pseudoarthrosis of the clavicle is a rare and benign malformation, characterized by the absence of the middle third of the clavicle. It is usually unilateral and the majority on the right side. The etiology is unknown, postulating diverse etiopathogenic theories (vascular, embryological and genetic).It can be detected in the neonatal period or, more frequently, during childhood. Occasionally it can be symptomatic. It may require treatment by surgical reconstruction by bone graft. Two cases are presented, one of neonatal diagnosis and another one of 3 years of age performed with 24 hours of difference. We emphasize on its consideration as a differential diagnosis of obstetric or post-traumatic fracture, cleidocranial dysplasia and neurofibromatosis type I.

[When to think about pediatric congenital pseudoarthrosis of the clavicle? Presentation of 2 cases]. / ¿Cuándo pensar en pseudoartrosis congénita de clavícula en pediatría? Presentación de 2 casos.

The congenital pseudoarthrosis of the clavicle is a rare and benign malformation, characterized by the absence of the middle third of the clavicle. It is usually unilateral and the majority on the right side. The etiology is unknown, postulating diverse etiopathogenic theories (vascular, embryological and genetic). It can be detected in the neonatal period or, more frequently, during childhood. Occasionally it can be symptomatic. It may require treatment by surgical reconstruction by bone graft. Two cases are presented, one of neonatal diagnosis and another one of 3 years of age performed with 24 hours of difference. We emphasize on its consideration as a differential diagnosis of obstetric or post-traumatic fracture, cleidocranial dysplasia and neurofibromatosis type I.

La pseudoartrosis congénita de la clavícula es una malformación rara y benigna, caracterizada por la ausencia del tercio medio de la clavícula. Suele ser unilateral y mayoritaria en el lado derecho. La etiología es desconocida y se postulan diversas teorías etiopatogénicas (vascular, embriológica y genética). Puede detectarse en el período neonatal o, más frecuentemente, durante la infancia. En ocasiones, puede ser sintomática. Puede requerir tratamiento mediante reconstrucción quirúrgica por injerto óseo. Se presentan 2 casos, uno de diagnóstico neonatal y otro de 3 años de edad realizados con 24 h de diferencia. Se destaca la consideración de este diagnóstico como diferencial de fractura obstétrica o postraumática, displasia cleidocraneal y neurofibromatosis de tipo 1.

Congenital pseudarthrosis of the clavicle: surgical decision making and outcomes.

BACKGROUND: Congenital pseudarthrosis of the clavicle (CPC) is a rare entity in which the primary ossification center of the clavicle fails to coalesce. The natural history of CPC is unknown, and there is controversy regarding surgical vs. conservative treatment. METHODS: A retrospective review of 47 pediatric patients treated for CPC was performed. The Quick Disabilities of the Arm and Shoulder (QuickDASH) survey and the Patient Reported Outcomes Measurement Information System (PROMIS) upper extremity domain were used to assess overall patient satisfaction, function, and quality of life after treatment. RESULTS: Twenty-four of 47 (51%) patients underwent surgical treatment. Of these, 9 patients (38%, 9/24) underwent surgery at <18 months of age using suture fixation alone, whereas the older 15 surgical patients (15/24, 62%) were treated with plate fixation. The younger surgical cohort had a nonunion rate of 43% (3/7) compared with 13% (2/15) in the older cohort. All surgical patients had resolution of preoperative symptoms. Eleven (11/24, 46%) surgical subjects responded to the follow-up survey. Upper extremity function normalized according to the QuickDASH survey (score of 0 for all subjects). The median PROMIS upper extremity domain score was 55, which was also in the normal range. CONCLUSIONS: This series of CPC patients improves our understanding of treatment options and outcomes of surgical treatment. All surgical patients had resolution of preoperative symptoms. Patients treated surgically with stable fixation at an older age had higher rates of union than those treated in infancy with suture fixation. Patient-reported outcomes were favorable overall.

Variation of the sternocleidomastoid muscle: a case report of three heads and an accessory head.

PURPOSE: Anatomical variations of the sternocleidomastoid muscle (SCM) have been observed to occupy multiple origins and insertion points and have supernumerary heads, sometimes varying in thickness. METHODS: An 85-year-old Korean male cadaver was dissected and a SMC with unilateral supernumerary heads was identified. RESULTS: Three heads and an accessory belly of the sternal head were recorded on the left side. There were two clavicular heads, one lateral and one medial. The sternal head originated inferior to the manubrium of the sternum. A small belly arose from the sternal head and merged to the lateral clavicular head on the C5 vertebrae level. These bellies inserted into the mastoid process of the temporal bone. CONCLUSIONS: These variants may be problematic during surgical approaches to the upper neck and occipital, and should thus be appreciated by the clinician.

Cleidocranial dysplasia syndrome with epilepsy: a case report.

BACKGROUND: Cleidocranial dysplasia is a rare autosomal dominant disorder resulting in skeletal and dental abnormalities due to the disturbance in ossification of the bones. The prevalence of CCD is one in a million of live births, and epileptic seizures are rarer in this disease. CASE PRESENTATION: Herein, we present a case of a 10-year-old girl, who not only suffered with cleidocranial dysplasia, but experienced frequent seizures. We initiated an anti-epileptic treatment for this patient with dose adjustments to her weight of levetiracetam (10 mg/kg, bid) for 3 months. The epileptic seizures were controlled, but the intelligence level and control of epilepsy need to be followed up for a longer duration. CONCLUSIONS: In clinical practice, if a patient has unusual facies, typical clavicle defect, skull bone enlargement, and unclosed anterior fontanelle, we should consider the possibility of cleidocranial dysplasia, genetic detection are helpful to make a confirmed diagnosis. In such cases, early diagnosis and treatment is important to correct deformities and improve the quality of life of patients.

Congenital Clavicular Pseudoarthosis-How to Differentiate It From the More Common Clavicular Fractures.

Congenital pseudoarthrosis of the clavicle is a rare entity that can be confused for a traumatic injury. We present 4 cases of congenital clavicular pseudoarthrosis and discuss its imaging findings that can help differentiate it from the more common clavicular facture. We also reviewed its epidemiology, embryology, and management based on available and most recent literature.

Compressão da artéria subclávia por pseudoartrose de clavícula: apresentação na quinta década de vida / Late presentation of critical upper limb ischemia caused by pseudarthrosis of the clavicle

A compressão da artéria subclávia no desfiladeiro torácico é um fenômeno amplamente conhecido. Anormalidades ósseas, como a pseudoartrose da clavícula, podem raramente causar compressão arterial a esse nível. A pseudoartrose pode desenvolver-se em decorrência de um trauma, que é a forma mais comum, ou ser congênita. Os autores descrevem o caso de uma paciente de 44 anos com quadro de isquemia crítica de membro superior direito. Apresentava história de fratura não tratada de clavícula direita aos 9 meses de idade que evoluiu com pseudoartrose e compressão extrínseca com oclusão da artéria subclávia. O segmento da clavicula acometido pela pseudoartrose foi ressecado e realizada uma tromboembolectomia tardia das artérias subclávia, braquial e distais, com boa evolução.

Compression of the subclavian artery in the thoracic outlet is a well-known phenomenon. In rare cases, bone abnormalities, such as pseudarthrosis of the clavicle, can cause arterial compression at this level. Pseudarthrosis may develop as a result of trauma, which is the more common form, or it may be congenital. Here, the authors describe the case of a 44-year-old patient with critical ischemia of the right upper limb. She had a history of untreated right clavicle fracture at 9 months of age which had progressed to pseudarthrosis and extrinsic compression of the subclavian artery causing occlusion. The segment of the clavicle involved was resected and late thromboembolectomy of the subclavian, brachial, distal arteries was performed, with good results.

Congenital pseudarthrosis of the clavicle treated by Masquelet technique.

Congenital pseudarthrosis of the clavicle (CPC) is a very rare pathology of which over 200 cases have been reported. Usually discovered during the first months of life, CPC is characterised by a definitive bone defect in the middle third of the clavicle. Generally asymptomatic, the pseudarthrosis of the clavicle can cause aesthetic issues and functional symptoms indicating a surgical repair. Different reconstruction techniques have been reported with various complications. We present a 14-year-old boy diagnosed with CPC and concerned about the cosmetic aspect of a swelling of his right clavicle. We performed a two-stage surgical repair using the induced membrane technique described by Masquelet. A complete bone union has been obtained, and patient is satisfied with the cosmetic appearance. In our opinion, the Masquelet technique is a safe and reproducible procedure to treat CPC in high-risk older patients with long gap allowing a rapid and lasting bone union.

Clavicle anatomical osteosynthesis plate breakage - failure analysis report based on patient morphological parameters.

Clavicle fracture reported incidence is about 5% of fractures in adult; among them, those located in the middle third of the shaft represent more than 80% from the total of cases. Due to the special morphological and biomechanical constraints of the clavicle, several methods for restoring morphological integrity in these fractures are described, including conservative, non-surgical treatment. The last 10 years of clinical studies in the field have favored the surgical treatment for selected cases; several osteosynthesis implants are in use - mostly anatomical plates with specific advantages and documented complications. A failed anatomical clavicle plate was explanted and analyzed after a protocol using stereomicroscopy, scanning electron microscopy and energy dispersive spectrometry. Based on the computed tomography (CT) scan determination of patient morphological parameters, a finite elements analysis of the failure scenario was completed. The failure analysis has proved that the plate breakage had occurred in the point of maximal elastic stress and minor deformation. The clinical implication is that no hole should remain free of screw during clavicle plate fixation and the implant should be chosen based on patient morphological parameters. In comminuted clavicle fracture, anatomic bridging with locked plate technique may lead to implant failure due to increase of the stress in the midshaft area. Thorough knowledge of anatomy and morphology of complex bones like the clavicle is necessary. Modern osteosynthesis anatomical implants are still to be improved.

Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.

Kabuki syndrome is a rare developmental disorder characterized by typical facial features, postnatal growth deficiency, mild to moderate intellectual disability, and minor skeletal anomalies. It is caused by mutations of the KMT2D and KDM6A genes while recently RAP1A and RAP1B mutations have been shown to rarely contribute to the pathogenesis. We report two patients' presentation of Kabuki syndrome caused by different KMT2D mutations, both including an interrupted/bipartite clavicle. The clinical diagnosis of Kabuki syndrome may be challenging, especially in younger patients and we suggest that the observation of a bipartite clavicle may be an additional diagnostic clue to prompt investigation for Kabuki syndrome. We also hypothesize that bipartite/pseudofractured clavicles or other skeletal defects may be under-recognized features of the clinical presentation of the chromatin remodeling disorders.

Congenital pseudarthrosis of the clavicle: a report on 27 cases.

HYPOTHESIS: We aimed to report our experience in treating congenital pseudarthrosis of the clavicle (CPC). MATERIALS AND METHODS: A retrospective search of the archive of our institute was performed; 27 cases (12 male and 15 female patients) affected by CPC were recorded. Among these patients, 19 underwent surgical intervention for cosmetic appearance between 1960 and 2015. Of 19 patients, 18 were treated by pseudarthrosis resection and stabilization with a Kirschner wire, whereas in 1 case, the osteosynthesis was performed with a plate. Iliac crest bone autograft was used in 15 patients, whereas 4 patients were treated with a fibular allograft. RESULTS: The mean follow-up period was 36.3 ± 49.1 months. Bone healing was achieved in 14 of 19 operated cases (74%); none of the patients had complaints regarding cosmetic abnormalities or unesthetic appearance. All the operated patients were pain free, range of motion was complete, and no other subjective anomalies were found. No vascular or neurologic complications were observed. However, the use of allograft was associated with high rates of nonunion in this case series (P = .037). CONCLUSION: CPC can be satisfactorily treated by K-wire fixation and autologous iliac crest bone grafting, which showed better results in terms of functional and cosmetic outcome.

Bilateral bony fusion around the supraspinatus muscle inducing muscle hypoplasia and shoulder pain.

We describe the case of a 30-year-old man who developed chronic bilateral shoulder pain that relapsed and remitted over the course of 1 year. The patient was diagnosed with congenital shoulder fusion anomalies. The right shoulder showed anomalous accessory articulation between the distal third of the clavicle and the acromion along with normal articulation of the shoulder on CT. At the left shoulder, bony fusions were present between the distal portion of the clavicle, the acromion, and the coracoid process, and between the coracoid process, upper portion of the glenoid, and upper body of the scapula, which formed a bony canal and was responsible for hypoplasia of the supraspinatus muscle on CT and MRI. To our knowledge, this is the first description of such congenital shoulder anomalies with extreme bony fusion and is an illustrative example of how imaging may be used to differentiate fusion from other congenital abnormalities of the shoulder to aid diagnosis.

Tomografía computarizada fetal de baja dosis para diagnosticar displasias óseas / Low-dose computed tomography to diagnose fetal bone dysplasias

Presentamos un caso de displasia cleidocraneal diagnosticado en la semana 25 de gestación mediante tomografía computarizada (TC) de baja dosis fetal. La sospecha era de displasia ósea grave debido al percentil bajo en los huesos largos y la apariencia ecográfica de craneosinostosis. La TC no demostró alteraciones incompatibles con la vida. La dosis efectiva de la prueba fue de 5 mSv, dentro del rango recomendado para estas exploraciones. La TC de baja dosis fetal es una técnica emergente que permite estudiar estructuras óseas con precisión a partir del segundo trimestre de gestación. En España, es legalmente posible interrumpir el embarazo en caso de malformación grave del feto incluso si se sobrepasa la semana 22 de gestación. Por tanto, ante la sospecha de una displasia ósea grave, el radiólogo debe conocer las estrategias para disminuir la dosis manteniendo una calidad diagnóstica suficiente, y conocer las estructuras óseas que debe evaluar (AU)

We present a case of cleidocranial dysplasia diagnosed by low-dose fetal computed tomography (CT) in the 25th week of gestation. Severe bone dysplasia was suspected because of the fetus’ low percentile in long bones length and the appearance of craniosynostosis on sonography. CT found no abnormalities incompatible with life. The effective dose was 5 mSv, within the recommended range for this type of examination. Low-dose fetal CT is a new technique that makes precision study of the bony structures possible from the second trimester of pregnancy. In Spain, abortion is legal even after the 22nd week of gestation in cases of severe fetal malformations. Therefore, in cases in which severe bone dysplasia is suspected, radiologists must know the strategies for reducing the dose of radiation while maintaining sufficient diagnostic quality, and they must also know which bony structures to evaluate (AU)