Sternal cleft and pectus excavatum: an overlooked congenital association?

BACKGROUND: Sternal cleft (SC), a rare thoracic malformation, is associated with pectus excavatum (PE) in 2.6-5% of cases. It remains unclear if these conditions are congenitally linked or if SC repair triggers PE. To investigate the potential higher frequency of PE in SC cases, we conducted a retrospective study of our SC patients. METHODS: We assessed PE incidence, progression, and management in SC patients treated at our institute from 2006 to 2022. When available, we collected pre-SC repair CT scan data, calculating the Haller Index (HI) and Correction Index (CI) and compared them to a selected control group. RESULTS: Among 8 SC patients, 7 had concomitant PE (87.5%), varying in severity. PE management ranged from observation to thoracoplasty, depending on its degree. We observed a significant pre-operative CI difference between SC and control group patients (p < 0.00001). In the last two SC repair cases, we attempted concurrent PE prevention or treatment. CONCLUSION: Our findings suggest an underestimated association between PE and SC in the existing literature. SC patients may exhibit a predisposition to PE from birth, which may become more apparent with growth after SC repair. Consequently, PE prevention or treatment should be considered during SC repair procedures.

Pectus Arcuatum: A Pectus Unlike Any Other.

BACKGROUND: Pectus arcuatum is often mistaken for a type of pectus carinatum. However, pectus arcuatum is a unique clinical form of pectus caused by premature obliteration of the sternal sutures (manubrial sternum, four sternebrae and xiphoïd process), whereas pectus carinatum is due to abnormal growth of the costal cartilage. In order to better describe pectus arcuatum, we analysed the files of patients with pectus arcuatum followed in our centers. METHODS: Multicenter retrospective study of young patients' files diagnosed with pectus arcuatum. RESULTS: The clinical diagnosis of pectus arcuatum was made in 34 patients with a mean age at diagnosis of 10.3 years (4-23 years). A chest profile X-ray or a CT scan was performed in 16 patients (47%) and confirmed the diagnosis of PA by the presence of a sternal fusion. It was complete in 12 patients. A malformation was associated in 35% of cases (Noonan syndrome 33%, scoliosis 25% or cardiopathy 16%). 11 patients (32%) had a family history of skeletal malformation. Orthopedic treatment was initiated in 3 patients without any success. 11 patients underwent surgical correction, which was completed in 7 of them. CONCLUSION: The diagnosis of pectus arcuatum is based on clinical experience and if necessary, on a profile chest X-ray showing the fusion of the sternal pieces. It implies the search for any associated malformations (musculoskeletal, cardiac, syndromic). Bracing treatment is useless for pectus arcuatum. Corrective surgery, based on a sternotomy associated with a partial chondro-costal resection, can be performed at the end of growth. LEVEL OF EVIDENCE: IV.

Combined Repair of Upper Sternal Cleft and Pectus Excavatum in a Child.

Sternal cleft accompanied by pectus excavatum is a rare type of congenital anomaly of the chest wall. Surgical correction is a suitable approach to restore the heart, large vessels, and respiratory dynamics early. This is a report of the successful surgical correction of upper sternal cleft anomaly accompanied by pectus excavatum in a child. The pectus excavatum was corrected without the use of any prosthesis. The cleft was closed by primary approximation with enough dissected pectoralis major muscle and partial thymectomy, mobility, and flexibility ensured by pectus correction. The integrity of the sternum and the chest wall was normal at the end of the 12-month follow-up period.

Congenital Superior Sternal Cleft Isolated in a Newborn: Report of a Rare Case and a Literature Review.

BACKGROUND Sternal cleft is a greatly rare congenital thoracic deformity, arising from a failure of the sternal bars fusion process that should be completed in the fetal period, the incidence of which is less than 0.15%. CASE REPORT Herein, we present a case report of a newborn girl having a superior congenital sternal cleft. After the baby was born, scar-like tissue was found in the middle of the chest and extended to the root of the umbilical cord. Based on the imaging data, this newborn was diagnosed with sternal cleft belonging to the superior sternal cleft and not associated with other congenital deformities. CONCLUSIONS As a rare congenital thoracic deformity, postpartum diagnosis of the sternal cleft mainly is currently based on medical imaging, including thoracic computed tomography (CT), three-dimensional (3D) reconstruction CT, and magnetic resonance imaging (MRI). Sternum cleft not only affects the aesthetic appearance but also leads to the destruction of the bone structure of the thorax, resulting in opposing thoracic movements. Therefore, early diagnosis and early treatment play significant roles in the treatment of this congenital sternal deformity. Regardless of whether there are clinical symptoms of sternal cleft, primary repair surgery must be done as soon as possible and during the neonatal period is best, in which simple surgical techniques achieve remarkable effects.

The prevalence and distribution of the flexor carpi radialis brevis muscle in the Turkish population.

The flexor carpi radialis brevis (FCRB) is a very rare anomalous muscle that is usually asymptomatic but may cause various pathologies, such as radial-sided wrist pain. The aim of this study was to determine the prevalence of FCRB in the Turkish population, its location, and sex differences. Forearm, wrist, and hand magnetic resonance images of 849 individuals aged 18-65 years were retrospectively evaluated in this study. The survey found an FCRB prevalence of 4%, with a prevalence of 3.6% among women and of 4.7% among men. However, the difference between the sexes was not statistically significant (p = 0.629). The origin of all 34 FCRBs identified was the distal third of the anterior aspect of the radius; the insertion site of 28 was the second metacarpal bone, whereas that of the remaining 6 was the os trapezium. In conclusion, the data of this study report the prevalence of FCRB for the first time in the Turkish population, which will contribute to radiological and surgical evaluations in the region and help in early and accurate diagnosis of various pathological conditions that may be caused by FCRB.

Congenital musculoskeletal anomalies - key radiographic findings.

Although radiographs are generally performed in the neonatal period to evaluate for causes of respiratory distress or to evaluate line placement, close attention to the osseous structures can provide important clues to an underlying diagnosis. Although segmentation anomalies can be random, they are frequently associated with more complex entities such as VACTERL association. A butterfly vertebral body can hint at a possible diagnosis of Alagille syndrome even before jaundice develops in an infant with a murmur. Close evaluation of the sacrum can identify abnormalities that point to caudal regression or Currarino triad. Other classic musculoskeletal abnormalities in the extremities are readily apparent on physical exam but require radiographic evaluation to define anatomy. Diagnoses such as congenital pseudoarthrosis of the clavicle, Apert syndrome, constriction band syndrome, and proximal focal femoral deficiency have pathognomonic imaging findings. Given that treatment for these is usually delayed until later in life, extremity imaging might not occur in the neonatal period.

Tips for Reporting Musculoskeletal Imaging Studies: Lessons Learned.

This paper is designed to be read by radiological trainees who are starting out with reporting musculoskeletal imaging studies. Based on the author's experience of over 25 years, it provides tips on how to report musculoskeletal imaging succinctly and effectively using a prose style report.

Role of the Lumbosacral Transition Vertebra and Vertebral Lamina in the Pathogenesis of Lumbar Disc Herniation.

OBJECTIVE: To investigate the prevalence of lumbosacral transition vertebrae (LSTVs) in both the normal population and the lumbar disc herniation (LDH) population and to determine the risk factors for LDH. METHODS: Between January 2019 and September 2020, all patients aged 18-39 years and underwent an anteroposterior (AP) X-ray of the lumbar vertebrae were retrospective reviewed in our institution. Those patients who were diagnosed with LDH were eligible for inclusion in the LDH group. During the same period, those patients admitted to our hospital who underwent an anteroposterior X-ray of the lumbar spine and had not been diagnosed with LDH were included in the control group. Those patients with disease that might affect the lumbar anatomy were excluded from both groups. The type of LSTV was classified according to the Castellvi classification. The height of the lumbar vertebral lamina was evaluated through the h/H index. The inter- and intra-observer reliability was evaluated by one senior radiologist and one senior orthopedist using intraclass correlation coefficient (ICC). The association between the LSTV and the herniation level was also investigated. Binary logistic regression was used to explore the association of different factors between the LDH group and the control group. RESULTS: Two hundred LDH patients (115 male and 85 female) and 200 individuals (108 male and 92 female) were investigated retrospectively. The prevalence of LSTVs was 71.5% (n = 143) in the LDH group and 34.0% (n = 68) in the control group. The most frequent LSTV types were type Ib and type IIa. The inter- and intra-observer ICCs of the measurement of "h/H" index and the classification of LSTV were all "excellent" (ICC > 0.90). The median h/H index in the control group was significantly higher than that in the LDH group (0.28 (0.26, 0.31) vs 0.34 (0.31, 0.37), P = 0.000). The distribution of the Castellvi classification in the L4/5 and L5/S1 herniation patients was significantly different (P = 0.048). LSTVs, BMI and the h/H index were closely associated with LDH, with odds ratios of 3.06 (95% CI: 2.12-4.43), 1.23 (95% CI: 1.13-1.33) and 0.09 (95% CI: 0.05-0.15), respectively. The incidence of L4/5 disc herniation in patients with an LSTV was significantly more common than that in patients with L5/S1 disc herniation (P = 0.048). CONCLUSION: The prevalence of LSTVs was 34.0% in the control group and 71.5% in the LDH group; LSTVs and BMI were positively correlated with LDH, and h/H was negatively correlated with LDH.

A case report of surgical repair of cleft sternum in a child.

BACKGROUND: Sternal cleft is a rare congenital chest wall defect, occurring in only 1 in 100,000 live births, and very few cases have been described in the literature. Surgery is indicated to protect the heart and major vessels. This study provides a clinical case presentation and literature review of sternal cleft. METHODS: This is a review of a case presenting with chest wall defects. The patient underwent a primary cleft closure at Children's Hospital No. 2. All perioperative data were collected and presented. CASE PRESENTATION: A healthy 3-year-old girl was admitted to Children's Hospital No. 2 with an abnormal chest shape, observed by her mother. An inverted "U"-shaped defect of the sternum was visible, and the extent of the defect could be observed by chest X-ray and spiral computed tomography (CT) imaging of the chest. After the diagnosis was confirmed, the patient was prepared for primary closure surgery. We achieved primary closure, the patient discontinued oxygen 5 days after surgery, and the patient was discharged 14 days after surgery. CONCLUSION: Chest wall malformations can present with various phenotypes, although congenital sternal cleft is a rare anomaly. This defect is often asymptomatic. Depending on the size of the defect, a sternal cleft may be treated or monitored. The optimal treatment during early life is surgical repair to achieve primary closure.

A 4-day-old newborn with an isolated sternal cleft: A rare case and literature review.

An isolated sternal cleft is an orphan congenital defect of the sternum that presents from birth to adulthood. We report the case of a 4-day-old newborn with an isolated congenital cleft sternum. We also reviewed the related literature and operative options.

Frequency of sternal variations and anomalies in living individuals evaluated by MDCT.

PURPOSE: The aim of this retrospective study was to present the frequency and MDCT appearances of sternal variations and anomalies, as well as to highlight their clinical significance. METHODS: This retrospective study was carried out on 1150 patients, who underwent chest MDCT. Axial planes, multiplanar and curved-planar reconstructed images were studied. Age and sex distribution of the variations was evaluated. RESULTS: Anatomical variations of the sternum were found in 74.1%. The most frequent variation was the double-ended xiphoid process (36.9%), followed by the single xiphoidal foramen (25.8%) and the sternal sclerotic band (12.8%). Other variations observed were: sternal notch (10.1%), xiphoidal ligament calcification (8.3%), sternal foramen (4.9%), complete manubriosternal fusion (4.1%) and sternoxiphoidal fusion (4.1%), triple-ended xiphoid process (3.7%), sternal cleft (1.5%), whereas the rest of the variations including sternoxiphoidal junction pseudoforamen, suprasternal bone, pseudocleft, suprasternal tubercle and absence of xiphoid process were in less than 1%. In our subjects, sternal and xiphoidal foramina were adjacent to: the pericardium (37.14%), the diaphragm (22.9%), the mediastinal fat (17.1%), the liver (11.4%), the lung (8.5%) and to the stomach (2.9%). CONCLUSIONS: Sternal variations are frequent, asymptomatic, detected incidentally at cross-sectional imaging and may be confused with pathologic conditions. Radiologists should be familiar with these variations in order to discriminate them from pathologies and avoid complications during interventional procedures. ADVANCES IN KNOWLEDGE: This study presents thoroughly the sternal variations' MDCT appearance, detected in a Greek population, correlates them with age and gender and discuss their clinical significance in detail.

[Median mandibular cleft in adults: a case report and literature review]. / Fente mandibulaire médiane chez l'adulte: à propos d'un cas et revue de la littérature.

Orofacial clefts are common congenital malformations. Tessier's classification system is the most widely used; it consists of 30 variants including median mandibular clefts (Tessier's cleft No. 30). They can be isolated or associated with cleft of the lower lip, tongue or more rarely, of the sternum. They are very rare, less than 70 cases (all types taken together) have been reported in the literature. We here report an exceptional case of mandibular and sternal cleft with literature review.

Anatomical Considerations of Embryology and Development of the Musculoskeletal System: Basic Notions for Musculoskeletal Radiologists.

The musculoskeletal (MSK) system begins to form in the third week of intrauterine development. Multiple genes are involved in the complex different processes to form the skeleton, muscles and joints. The embryonic period, from the third to the eighth week of development, is critical for normal development and therefore the time when most structural defects are induced. Many of these defects have a genetic origin, but environmental factors may also play a very important role. This review summarizes the embryology of the different components of the MSK system and their configuration as an organ-system, analyzes the clinical implications resulting from failures in the process of organogenesis, and describes the first approach to diagnosis of skeletal abnormalities using prenatal ultrasound.

Imaging of Congenital Skeletal Disorders.

Osteochondrodysplasias are the result of the expression of gene mutations. The phenotypes in osteochondrodysplasias evolve through life, with the possibility that previously unaffected bones may be involved at later stages of growth. Due to the variable time of onset, the diagnosis may be made prenatally, at birth, or later. Certainty in the diagnosis is sometimes only achieved as the patient matures and the disease evolves. Radiographic evaluation is a fundamental part of the diagnostic work-up of congenital skeletal disorders and in most cases the first tool used to arrive at a diagnosis. This review describes the imaging characteristics, specific signs, and evolution of several skeletal dysplasias in which diagnosis may be directly or indirectly suggested by radiologic findings. A definitive accurate diagnosis of a congenital skeletal abnormality is necessary to help provide a prognosis of expected outcomes and to counsel parents and patients.

Case 289: PIK3CA-related Overgrowth Spectrum (PROS): CLOVES Syndrome and Coexisting Fibroadipose Vascular Anomaly.

HISTORY: Part one of this case appeared 4 months previously and may contain larger images. An 8-year-old girl presented to our hospital with painful swelling of the left thigh and soft-tissue swelling in the right chest wall. The patient's history revealed that the swelling had been present since birth but had grown slowly. She had no history of relevant trauma. Her blood pressure was 145/95 mmHg (normal value, <115/76 mmHg), and her heart rate was 105 beats per minute (normal value, 75-118 beats per minute). The patient's electrocardiogram displayed sinus tachycardia. Physical examination revealed soft-tissue hypertrophy in the left thigh and right lower chest wall. A painful soft and flexible mass measuring approximately 5 × 6 × 15 cm (in the anteroposterior, transverse, and craniocaudal directions, respectively) was detected at the left thigh. Moreover, a painless soft mass measuring approximately 3 × 8 × 10 cm (in the anteroposterior, transverse, and craniocaudal directions, respectively) was detected in the right lower chest wall, and the overlying skin was intact. Pink macules with a 3-cm diameter on the anterior left superior thigh and a 2.5-cm diameter in the left inguinal region were detected. Examination of other systems, including the cardiovascular system, revealed normal findings. Laboratory test results were within normal limits. Abdominal US showed perirenal vascular collaterals, and musculoskeletal US of the left thigh revealed vascular collaterals (images not shown). Therefore, thoracoabdominal CT angiography and contrast material-enhanced MRI of the bilateral thigh were performed.

A calibrated deep learning ensemble for abnormality detection in musculoskeletal radiographs.

Musculoskeletal disorders affect the locomotor system and are the leading contributor to disability worldwide. Patients suffer chronic pain and limitations in mobility, dexterity, and functional ability. Musculoskeletal (bone) X-ray is an essential tool in diagnosing the abnormalities. In recent years, deep learning algorithms have increasingly been applied in musculoskeletal radiology and have produced remarkable results. In our study, we introduce a new calibrated ensemble of deep learners for the task of identifying abnormal musculoskeletal radiographs. Our model leverages the strengths of three baseline deep neural networks (ConvNet, ResNet, and DenseNet), which are typically employed either directly or as the backbone architecture in the existing deep learning-based approaches in this domain. Experimental results based on the public MURA dataset demonstrate that our proposed model outperforms three individual models and a traditional ensemble learner, achieving an overall performance of (AUC: 0.93, Accuracy: 0.87, Precision: 0.93, Recall: 0.81, Cohen's kappa: 0.74). The model also outperforms expert radiologists in three out of the seven upper extremity anatomical regions with a leading performance of (AUC: 0.97, Accuracy: 0.93, Precision: 0.90, Recall:0.97, Cohen's kappa: 0.85) in the humerus region. We further apply the class activation map technique to highlight the areas essential to our model's decision-making process. Given that the best radiologist performance is between 0.73 and 0.78 in Cohen's kappa statistic, our study provides convincing results supporting the utility of a calibrated ensemble approach for assessing abnormalities in musculoskeletal X-rays.

Reinforcing the vascular disruption theory of the genesis of Poland's syndrome: a rare association of diaphragmatic eventration in a preterm infant with severe musculoskeletal defects.

A preterm female infant was admitted at birth with respiratory distress. On examination, she had an asymmetric right chest wall and ipsilateral small hand. Air entry was reduced over the right chest. A clinical diagnosis of Poland's syndrome was made based on the hypoplasia of the right pectoral muscles, absent nipple, deformed ribs and symbrachydactyly of the ipsilateral hand. Chest X-ray suggested and ultrasound confirmed eventration of the right hemidiaphragm. 'Subclavian artery supply disruption sequence' (SASDS) theory by Bavnick and Weaver remains the most accepted pathogenic mechanism in Poland's syndrome. This case reinforces SASDS theory associated with the genesis of Poland's syndrome that relates to the pathogenicity of vascular disruption of subclavian artery, characteristics of which are unilateral pectoral defects, symbrachydactyly and eventration of the diaphragm. At 2 months, she underwent diaphragm plication. She is under review by our multidisciplinary surgical team for reconstruction of the chest deformity.

Bilateral bipartite lunate misdiagnosed as carpal fracture: a case report and brief review of literature.

Bilateral bipartite lunate is a very rare congenital anomaly of the lunate. A 36-year-old military European male was referred to our service diagnosed with a lunate fracture. Symptoms began 3 months before our encounter, after falling on his outstretched left hand. The patient was misdiagnosed with a lunate fracture, therefore treated with a cast and then transitioned to a removable splint over 2 months in total; When the patient presented to our facility, on physical examination, he referred pain over the dorso-ulnar side of the wrist, especially the ulnar snuff. Tenderness to palpation over the fovea and positive triangular fibrocartilage complex axial compression test was encountered. Bilateral wrist X-rays were taken, and a diagnosis of bilateral bipartite lunate was made by our team. The patient was treated for ulnar-sided wrist pain with steroid injection and physical rehabilitation. A literature review on bipartite lunate was conducted, and cases share three basic common features: unilateral involvement, incidentally diagnosed after a traumatic event, and absence of positive clinical findings related to the bipartition.