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Ned Tijdschr Geneeskd ; 1652021 01 21.
Article Nl | MEDLINE | ID: mdl-33560600

Introduction of new genetic test technologies in the last decade have accelerated genetic diagnosis in many medical specialties and have increased diagnostic yield considerably. SNP-arrays have been established as first tier diagnostic tools, more and more being replaced by next generation sequencing strategies, like targeted genomic panels and whole exome sequencing. We present the diagnostic work-up of a clinical case, a girl with congenital vertebral and rib anomalies. This case illustrates the complexity of genetic tests and the need for knowledge and experience to interpret the results. Intensive collaboration between pediatrician, clinical geneticist and laboratory specialist is mandatory, as is long-term commitment to involve parents in the diagnostic journey .

Abnormalities, Multiple/diagnosis , Genetic Testing/methods , Ribs/abnormalities , Spine/abnormalities , Whole Exome Sequencing/methods , Abnormalities, Multiple/genetics , Child , Female , Humans
Afr J Paediatr Surg ; 17(3 & 4): 99-103, 2020.
Article En | MEDLINE | ID: mdl-33342843

Context: Since the gap between two atretic segments of oesophagus is a critical determinant of prognosis for oesophageal atresia/tracheoesophageal fistula (EA/TEF), the search for a surrogate non-invasive pre-operative marker of long gap atresia continues. Aims: The purpose of the study was to compare the presence of normal and supernumerary ribs with length of EA and survival rates. Settings and Design: A prospective observational study was conducted at a tertiary care referral neonatal intensive care unit in North Karnataka, India, from January 2016 to June 2019. Subjects and Methods: Amongst babies with EA/TEF, pre-operative radiograph helped determine the number of ribs, and babies were divided into two groups; Group I: babies with 12 ribs and Group II: babies with supernumerary ribs. Statistical Analysis Used: Nominal variables were expressed as percentage and continuous variables as mean standard deviation. MedCalc software was used to compare proportions and means. A P < 0.05 was considered statistically significant. Results: Of the 61 cases, 51 were operated. Long gap EA was predominantly seen amongst babies in Group II (40% in Group II vs. 27% in Group I, P= 0.424). Survival rates by percentage were lower in babies in Group II (60% in Group II vs. 80% in Group I, P= 0.188). Both the above findings were proven statistically insignificant. The overall survival rate amongst the study population was 78.4% (39/51). Conclusions: Supernumerary ribs were associated with a higher occurrence of long gap EA and lower survival rates, though statistically insignificant. Multicentre collaboration may provide significant input for strengthening or refuting the above hypothesis.

Esophageal Atresia/diagnosis , Ribs/abnormalities , Adult , Esophageal Atresia/epidemiology , Esophageal Atresia/surgery , Female , Humans , Incidence , India/epidemiology , Infant , Infant, Newborn , Male , Prognosis , Prospective Studies , Radiography , Survival Rate/trends
Am J Med Genet A ; 182(11): 2501-2507, 2020 11.
Article En | MEDLINE | ID: mdl-32869452

EVEN-PLUS syndrome is a rare condition characterized by its involvement of the Epiphyses, Vertebrae, Ears, and Nose, PLUS other associated findings. We report here the fifth case of EVEN-PLUS syndrome with novel variants c.818 T > G (p.L273X) and c.955C > T (p.L319F) in the HSPA9 gene identified through whole-exome sequencing. The patient is the first male known to be affected and presented with additional features not previously described with EVEN-PLUS syndrome. These features include agenesis of the septum pellucidum, a short chest and sternum, 13 pairs of ribs, a single hemivertebra, laterally displaced nipples, hydronephrosis, unilateral cryptorchidism, unilateral single palmar crease, bilateral clubfoot, and hypotonia. qPCR analysis provides supporting evidence for a nonsense-mediated decay mechanism for the HSPA9 truncating variant. In silico 3D modeling supports the pathogenicity of the c.955C > T (p.L319F) missense variant. The study presented here further describes the syndrome and broadens its mutational and phenotypic spectrum. Our study also lends support to HSPA9 variants as the underlying etiology of EVEN-PLUS syndrome and ultimately provides a better understanding of the molecular basis of the condition.

HSP70 Heat-Shock Proteins/genetics , Mitochondrial Proteins/genetics , Musculoskeletal Abnormalities/genetics , Mutation, Missense , Septum Pellucidum/pathology , Clubfoot/complications , Cryptorchidism/complications , Exome , Genetic Association Studies , Genetic Variation , Humans , Hydronephrosis/complications , Imaging, Three-Dimensional , Infant , Karyotyping , Male , Muscle Hypotonia/complications , Mutation , Phenotype , RNA, Messenger/metabolism , Ribs/abnormalities , Septum Pellucidum/abnormalities , Sternum/abnormalities , Syndrome , Whole Exome Sequencing
PLoS One ; 15(5): e0232575, 2020.
Article En | MEDLINE | ID: mdl-32379835

BACKGROUND: Pectus excavatum is the most common chest wall skeletal deformity. Although commonly evaluated in adolescence, its prevalence in adults is unknown. METHODS AND FINDINGS: Radiographic indices of chest wall shape were analyzed for participants of the first (n = 2687) and second (n = 1780) phases of the population-based Dallas Heart Study and compared to clinical cases of pectus (n = 297). Thoracic computed tomography imaging studies were examined to calculate the Haller index, a measure of thoracic axial shape, and the Correction index, which quantitates the posterior displacement of the sternum relative to the ribs. At the level of the superior xiphoid, 0.5%, 5% and 0.4% of adult Dallas Heart Study subjects have evidence of pectus excavatum using thresholds of Haller index >3.25, Correction index >10%, or both, respectively. Radiographic measures of pectus are more common in females than males and there is a greater prevalence of pectus in women than men. In the general population, the Haller and Correction indices are associated with height and weight, independent of age, gender, and ethnicity. Repeat imaging of a subset of subjects (n = 992) demonstrated decreases in the mean Haller and Correction indices over seven years, suggesting change to a more circular axial thorax, with less sternal depression, over time. CONCLUSIONS: To our knowledge, this is the first study estimating the prevalence of pectus in an unselected adult population. Despite the higher reported prevalence of pectus cases in adolescent boys, this study demonstrates a higher prevalence of radiographic indices of pectus in adult females.

Funnel Chest/epidemiology , Thoracic Wall/abnormalities , Adolescent , Adult , Child , Cohort Studies , Female , Funnel Chest/diagnostic imaging , Humans , Male , Middle Aged , Prevalence , Radiography, Thoracic/methods , Ribs/abnormalities , Ribs/diagnostic imaging , Severity of Illness Index , Texas/epidemiology , Thoracic Wall/diagnostic imaging , Tomography, X-Ray Computed/methods , Xiphoid Bone/abnormalities , Xiphoid Bone/diagnostic imaging , Young Adult
Surg Radiol Anat ; 42(8): 865-870, 2020 Aug.
Article En | MEDLINE | ID: mdl-32424683

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.

Clavicle/abnormalities , Ligaments/abnormalities , Ribs/abnormalities , Subclavian Vein/pathology , Thoracic Outlet Syndrome/etiology , Angioplasty, Balloon , Cadaver , Decompression, Surgical/methods , Female , Humans , Ligaments/surgery , Male , Middle Aged , Phlebography , Subclavian Vein/diagnostic imaging , Thoracic Outlet Syndrome/diagnosis , Thoracic Outlet Syndrome/surgery , Treatment Outcome
Pediatr Pulmonol ; 55(6): 1487-1489, 2020 06.
Article En | MEDLINE | ID: mdl-32311839

A 17-year-old female who presented with cough, chest pain, dyspnea, and hemoptysis was found to have an intrathoracic rib. Patients who are diagnosed with intrathoracic ribs are most often asymptomatic and should undergo limited diagnostic workup. Intrathoracic ribs are rare congenital anomalies incidentally identified after chest radiography performed for another indication, as is the case with this patient. In this case, further evaluation was necessary due to persistent symptoms. Here, we used contrast-enhanced ultrasound after chest radiography and computed tomography to further evaluate the fatty intrathoracic mass and exclude vascular features suggestive of a tumor.

Ribs/abnormalities , Adolescent , Female , Humans , Radiography , Ribs/diagnostic imaging , Tomography, X-Ray Computed
World Neurosurg ; 138: 187-192, 2020 06.
Article En | MEDLINE | ID: mdl-32169617

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.

Anatomic Variation , Cervical Rib/abnormalities , Ribs/abnormalities , Synostosis/pathology , Humans , Male , Middle Aged
J Laparoendosc Adv Surg Tech A ; 30(3): 334-337, 2020 Mar.
Article En | MEDLINE | ID: mdl-31895629

Background: Slipping rib syndrome (SRS) is an often underdiagnosed cause of lower chest wall and abdominal pain. The diagnosis of SRS is established by physical examination with or without dynamic ultrasound. The pain can be debilitating and surgical excision of the nonattached, subluxing cartilages is curative for most patients, but frustratingly, up to a quarter of patients have transient or limited relief and require reoperation. Some of these patients were found to have subluxation of the remaining bony ribs, suggesting that excision of rib cartilage alone may not be curative in a subset of patients. Materials and Methods: A retrospective review was performed of 3 patients with recurrent slipping rib pain and hypermobile bony ribs on reoperation. In an effort to stabilize the hypermobile ribs, vertical bioabsorbable plating across their ribs was performed. The plates secure the ribs apart from each other, preventing the movement of ribs against each other and therefore the pain. Results: All patients tolerated the procedure well. Mean length of stay was 2.6 days. Mean follow-up is 7 months and all report significant improvement in pain. Conclusions: Rib plating allows stabilization of hypermobile ribs, while preserving the patient's anatomical rib cage, and is a safe treatment for recurrent pain after the initial procedure. This is a novel approach in patients with recurrent slipping rib symptoms.

Absorbable Implants , Bone Plates , Costal Cartilage/surgery , Musculoskeletal Abnormalities/surgery , Ribs/surgery , Abdominal Pain/etiology , Adolescent , Cartilage , Chest Pain/etiology , Child , Costal Cartilage/abnormalities , Female , Humans , Musculoskeletal Abnormalities/complications , Recurrence , Reoperation , Retrospective Studies , Ribs/abnormalities , Syndrome , Ultrasonography/methods
BMJ Case Rep ; 13(1)2020 Jan 23.
Article En | MEDLINE | ID: mdl-31980478

Spondylothoracic dysostosis is a rare congenital disorder characterised by multiple vertebral malformations, shortening of the spine and fusion of the ribs at the costovertebral junction. These abnormalities create anaesthetic challenges due to difficult airway, severe restrictive lung disease and spine deformity necessitating a multidisciplinary approach and careful perioperative planning. We present the perianaesthetic management of a parturient with spondylothoracic dysostosis who successfully underwent preterm caesarean delivery under general anaesthesia with awake videolaryngoscopy-assisted tracheal intubation.

Abnormalities, Multiple/therapy , Anesthesia, Obstetrical , Hernia, Diaphragmatic/therapy , Pregnancy Complications/therapy , Ribs/abnormalities , Spine/abnormalities , Adult , Cesarean Section , Female , Humans , Intubation, Intratracheal , Laryngoscopes , Pregnancy
Surg Radiol Anat ; 42(4): 411-415, 2020 Apr.
Article En | MEDLINE | ID: mdl-31531710

Common carotid artery usually bifurcates at the superior border of thyroid cartilage, corresponding to the C3-4 junction, however bifurcation level may vary. Common carotid bifurcation may have rare variations like separate origins of left internal and external carotid arteries from aortic arch, or bifurcation of common carotid artery within thoracic cavity. Intrathoracic carotid bifurcation is a rare variation with limited number of cases reported. The occurrence of a low carotid bifurcation seems to be embryologically related to the persistence of the ductus caroticus. Additionally, intrathoracic carotid bifurcation can be accompanied by findings of Klippel-Feil syndrome. Herein, we present imaging findings of an incidentally detected intrathoracic left common carotid artery bifurcation in a pediatric patient accompanied by fusion of the cervical vertebrae and ribs.

Carotid Artery, Common/abnormalities , Cervical Vertebrae/abnormalities , Klippel-Feil Syndrome/diagnostic imaging , Ribs/abnormalities , Carotid Artery, Common/diagnostic imaging , Cervical Vertebrae/diagnostic imaging , Child , Female , Humans , Incidental Findings , Radiography, Thoracic , Ribs/diagnostic imaging , Tomography, X-Ray Computed
Acta Chir Belg ; 120(1): 76-77, 2020 Feb.
Article En | MEDLINE | ID: mdl-31580201

Congenital anomalies of the ribs are relatively common, and they can be divided in numerical (for example cervical ribs) or structural abnormalities (for example bifid ribs). These anomalies are usually asymptomatic. Literature on symptomatic bifid ribs is limited. We present the case of a 36-year old male without any relevant medical history or medication who was referred to our center. After lifting a heavy object, he experienced sudden onset pain on the right anterior chest, with associated shortness of breath. Computed tomography of the chest showed a significant hemothorax on the right side, compression atelectasis of the right lower lobe, and an anomalous fifth right rib - described as a bifid rib. A VATS resection of the bifid rib was performed.The images of this case illustrate the unusual traumatic perforation of the lung caused by a bifid rib. The case illustrates that one might consider resection of an asymptomatic bifid rib when imaging suggests significant compression on the lung parenchyma.

Hemothorax/etiology , Lung Injury/etiology , Ribs/abnormalities , Adult , Hemothorax/diagnostic imaging , Humans , Lung Injury/diagnostic imaging , Male , Tomography, X-Ray Computed
J Anat ; 236(5): 931-945, 2020 05.
Article En | MEDLINE | ID: mdl-31884688

Ribs are seldom affected by developmental disorders, however, multiple defects in rib structure are observed in the spliceosomal disease cerebro-costo-mandibular syndrome (CCMS). These defects include rib gaps, found in the posterior part of the costal shaft in multiple ribs, as well as missing ribs, shortened ribs and abnormal costotransverse articulations, which result in inadequate ventilation at birth and high perinatal mortality. The genetic mechanism of CCMS is a loss-of-function mutation in SNRPB, a component of the major spliceosome, and knockdown of this gene in vitro affects the activity of the Wnt/ß-catenin and bone morphogenic protein (BMP) pathways. The aim of the present study was to investigate whether altering these pathways in vivo can recapitulate rib gaps and other rib abnormalities in the model animal. Chick embryos were implanted with beads soaked in Wnt/ß-catenin and BMP pathway modulators during somitogenesis, and incubated until the ribs were formed. Some embryos were harvested in the preceding days for analysis of the chondrogenic marker Sox9, to determine whether pathway modulation affected somite patterning or chondrogenesis. Wnt/ß-catenin inhibition manifested characteristic rib phenotypes seen in CCMS, including rib gaps (P < 0.05) and missing ribs (P < 0.05). BMP pathway activation did not cause rib gaps but yielded missing rib (P < 0.01) and shortened rib phenotypes (P < 0.05). A strong association with vertebral phenotypes was also noted with BMP4 (P < 0.001), including scoliosis (P < 0.05), a feature associated with CCMS. Reduced expression of Sox9 was detected with Wnt/ß-catenin inhibition, indicating that inhibition of chondrogenesis precipitated the rib defects in the presence of Wnt/ß-catenin inhibitors. BMP pathway activators also reduced Sox9 expression, indicating an interruption of somite patterning in the manifestation of rib defects with BMP4. The present study demonstrates that local inhibition of the Wnt/ß-catenin and activation of the BMP pathway can recapitulate rib defects, such as those observed in CCMS. The balance of Wnt/ß-catenin and BMP in the somite is vital for correct rib morphogenesis, and alteration of the activity of these two pathways in CCMS may perturb this balance during somite patterning, leading to the observed rib defects.

Bone Morphogenetic Proteins/metabolism , Intellectual Disability/genetics , Micrognathism/genetics , Ribs/abnormalities , SOX9 Transcription Factor/genetics , Wnt Signaling Pathway/physiology , snRNP Core Proteins/genetics , Animals , Chick Embryo , Chondrogenesis/genetics , Mutation , Signal Transduction/physiology
Z Geburtshilfe Neonatol ; 224(3): 153-159, 2020 Jun.
Article De | MEDLINE | ID: mdl-31853915

Within 4 years (2014-2017), we genetically diagnosed 2 newborns with Kagami-Ogata syndrome (OMIM #608149). As fetuses they exhibited prenatal polyhydramnios and in 1 case hepatomegaly. After birth, the newborns suffered from respiratory distress. Typical phenotypic features, such as muscular hypotonia, a protruding philtrum, full cheeks and a depressed nasal bridge, were present. Chest X-rays revealed coat-hanger ribs and a bell-shaped thorax, suggestive of the entity. Kagami-Ogata syndrome is caused by an aberrant gene expression of chromosome 14 and was first described in 1991. Possible causes are paternal uniparental disomy of chromosome 14, epimutations and microdeletions. Approximately 70 cases have been reported in the literature, with 34 comprising the original cohort of M. Kagami and T. Ogata. The incidence of the disease is unknown. Patients often manifest a developmental delay and an intellectual disability, although in the meantime cases with milder clinical courses have been described. In the cohort of Kagami and Ogata 3 patients developed hepatoblastoma, which is a common feature in another imprinting disorder, namely the Beckwith-Wiedemann syndrome. Therefore, hepatoblastoma should be considered in follow-up examinations.

Chromosome Disorders/genetics , Chromosomes, Human, Pair 14/genetics , Intellectual Disability/genetics , Ribs/abnormalities , Thorax/abnormalities , Uniparental Disomy/genetics , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Chromosome Disorders/diagnosis , Female , Genomic Imprinting , Humans , Infant, Newborn , Polyhydramnios , Pregnancy , Ribs/diagnostic imaging , Thorax/diagnostic imaging
Am J Case Rep ; 20: 1915-1919, 2019 Dec 21.
Article En | MEDLINE | ID: mdl-31862868

BACKGROUND Thoracoschisis is a very rare congenital birth defect defined by the herniation of intra-abdominal organs through a defect in the thoracic wall. Though often associated with other birth defects as a part of the "limb-body wall complex" deformities, thoracoschisis has very rarely been reported as an isolated finding. CASE REPORT Here we present the case of a 30-day-old term male infant with an isolated left thoracoschisis managed successfully by primary closure. The patient was monitored postnatally in the Neonatal Intensive Care Unit (NICU) of Maputo Central Hospital because of the presence of a herniated mass through a left chest wall defect below the left nipple. Computed tomography (CT) scans suggested the presence of a left diaphragmatic hernia, left rib agenesis, and herniation of an unidentifiable intra-abdominal organ through the anterior left chest wall. On day of life (DOL) 30, when global health outreach pediatric surgeons arrived at the hospital, the decision was made to operate on the child. The mass was found to be of liver origin, the exposed tissue was excised, and primary closure of the chest wall was accomplished. The patient's postoperative course involved a wound infection that resolved favorably with treatment, allowing for discharged home on postoperative day (POD) 17 in stable condition. CONCLUSIONS Our case report highlights the importance of recognizing this rare condition and directing appropriate surgical care.

Congenital Abnormalities/surgery , Hernias, Diaphragmatic, Congenital/surgery , Liver Diseases/congenital , Liver Diseases/surgery , Thoracic Wall/abnormalities , Thoracic Wall/surgery , Congenital Abnormalities/diagnostic imaging , Hernias, Diaphragmatic, Congenital/diagnostic imaging , Humans , Infant, Newborn , Liver Diseases/diagnostic imaging , Male , Rare Diseases , Ribs/abnormalities , Thoracic Wall/diagnostic imaging , Tomography, X-Ray Computed
Int. j. morphol ; 37(4): 1522-1526, Dec. 2019. graf
Article En | LILACS | ID: biblio-1040164

The cervical rib (CR) is a rare skeletal anomaly, which generally articulated with the transverse process of the 7th cervical vertebra, and commonly lead to compression of neurovascular structures in the region of the thoracic outlet. CRs are divided into 2 classes as complete and incomplete forms. A clarifying description of the so-called complete CR form has not been found with sufficient information in the literature. We aimed to present a novel case of an anomalous, supernumerary, extra, or additional rib which arises from the seventh cervical vertebra. We present the case of a 23-year-old female who presented with a mass described as slowgrowing since her childhood in the supraclavicular region. The patient complained of pain, numbness, weakness, and difficulty in lifting her right arm, which increased gradually over in the last 6 months. Physical examination revealed findings of thoracic outlet syndrome (TOS). Radiographic analysis demonstrated a huge cervical rib, which resembles the size of a real thoracic rib. The cervical rib was completely resected through the supraclavicular approach. There is not enough data in theliterature about different morphologic properties of CRs. It is presented with 3-D CT images before and after surgical resection. The final version of the transformation of C7 transverse process to an original Thoracic Rib is shown. As a result, the following question presented, can it be called a Zeroth Rib?.

La costilla cervical (CC) es una anomalía esquelética rara, que generalmente se articula con el proceso transverso de la séptima vértebra cervical y generalmente conduce a la compresión de estructuras neurovasculares en la región de salida torácica. Las CC se dividen en 2 clases, como formas completas e incompletas. No se ha encontrado una descripción aclaratoria de la forma completa de CC, con información insuficiente en la literatura. El objetivo de este trabajo fue presentar un nuevo caso de costilla anómala, supernumeraria, extra o adicional que surge de la séptima vértebra cervical. Exponemos el caso de una mujer de 23 años que presentó una masa descrita como de crecimiento lento desde su infancia en la región supraclavicular. La paciente relató dolor, entumecimiento, debilidad y dificultad para levantar el miembro superior derecho, con un aumento gradual de sus síntomas en los últimos 6 meses. El examen físico reveló hallazgos del síndrome de salida torácica (SST). El análisis radiográfico demostró una costilla cervical de tamaño importante, que se asemejaba al tamaño de una costilla torácica real. La costilla cervical fue resecada completamente a través de un abordaje supraclavicular. No hay suficientes datos en la literatura sobre las diferentes características morfológicas de las CC. Se presentan imágenes tridimensionales de tomogracía computarizada, antes y después de la resección quirúrgica. Se muestra la versión final de la transformación del proceso transverso de C7 a una costilla torácica original. Como resultado, se plantea la siguiente pregunta, ¿se puede denominar a esta costilla como "costilla cero"?.

Humans , Female , Young Adult , Thoracic Outlet Syndrome/etiology , Thoracic Outlet Syndrome/diagnostic imaging , Cervical Rib/surgery , Cervical Rib/diagnostic imaging , Ribs/abnormalities
Pediatr Neurosurg ; 54(6): 367-374, 2019.
Article En | MEDLINE | ID: mdl-31597143

Spondylocostal dysostosis is a very rare combination of complex vertebra and rib malformations, accompanied occasionally by other disorders. A 3-year-old girl presented kyphoscoliosis, foot deformities, gate disturbance, and urinary incontinence. The CT and MRI examination revealed kyphosis and scoliosis with a double curve, some absent, broadened, bifurcating and fused ribs, hemivertebrae, butterfly and cleft vertebrae in thoracic and lumbar region, sporadic cleft or absent vertebral arches or pedicles, and hypoplastic sacrum with a cleft of the S2 vertebra. Spina bifida occulta extended from T10 to T11, and from L3 to the end of the sacrum. Two hemicords, separated by a bony septum and surrounded by their own dural tubes (type I), were present from the level of T9 to the conus medullaris. Filum terminale was thick and duplicated. Syringomyelia was present in the thoracic cord from T5 to T8. Finally, a small meningocele was seen at the T10-T11 level, and a subcutaneous lipoma in the thoracolumbar region. To our knowledge, such a combination of vertebra, rib, and cord malformations, including the mentioned additional disorders, has never been reported.

Dysostoses/diagnostic imaging , Ribs/abnormalities , Ribs/diagnostic imaging , Spinal Cord/abnormalities , Child, Preschool , Female , Foot Deformities, Congenital/etiology , Gait Disorders, Neurologic/etiology , Humans , Kyphosis/diagnostic imaging , Lipoma/diagnostic imaging , Lumbar Vertebrae/abnormalities , Lumbar Vertebrae/diagnostic imaging , Magnetic Resonance Imaging , Meningocele/diagnostic imaging , Sacrum/abnormalities , Sacrum/diagnostic imaging , Scoliosis/diagnostic imaging , Spina Bifida Occulta/diagnostic imaging , Spinal Cord/diagnostic imaging , Subcutaneous Tissue/diagnostic imaging , Syringomyelia/diagnostic imaging , Thoracic Vertebrae/abnormalities , Thoracic Vertebrae/diagnostic imaging , Tomography, X-Ray Computed , Urinary Incontinence/etiology