Rib Anomalies Research Articles

Poland syndrome: a case report

Poland syndrome is characterized by the absence or hypoplasia of other chest muscles: small pectoral muscle, anterior tightened muscle, grandorsal muscle, and deltoid muscle. Anomalies of the thoracic cage: agenesis or hypoplasia of one or more costal segments, pectus carinatum, excavatum, clavicular hypoplasia, pulmonary herniation. Abnormalities of the mammary region: agenesis or hypoplasia of the breast, areola and nipple. The reported incidence of Poland’s syndrome ranges from 1 in 7,000 to 1 in 100,000. Males are affected more frequently by a 2:1 to 3:1 ratio Poland’s syndrome has also been diagnosed in 1 of 19,000 mammograms. The right side of the body was found to be involved in 60% to 75% of patients - associated malformations: genitourinary malformations, cardiac malformation, hepatic and biliary tract malformations. Case report Our case involves a 7-month-old boy with no medical history of cardiac or respiratory complaints. This is a male child with around 65cm height, and 7kg weight. There is no family history of consanguineous marriage and no family history of congenital anomalies. All siblings are alive and healthy. The child’s milestones are within normal limits. There is aplasia of the right sternocostal head and clavicular heads and abdominal head of the pectoralis major muscle, there is a hypoplasia of the right nipple and breast and absence of subcutaneous fat on the same side. Ribs are visible on the right chest wall. Physical examination shows no history of hand and digit anomaly and no rib anomalies. Chest wall asymmetry with right chest wall showing depression on axillary floor. The anterior axillary fold is absent. On attempting abduction of the shoulder, it shows the absence of the sternocostal head of the pectoralis major.

Correlation of anterior chest wall anomalies and spinal deformities: a comprehensive descriptive study.

To investigate the association and evaluate the characteristics between different types of anterior chest wall and spinal deformities. A total of 548 patients with anterior chest wall deformities were included in this study. Clinical and radiological examinations were performed to determine spinal deformities. The type and severity of the spinal deformities were evaluated and their relationships with chest wall deformity subtypes were statistically analyzed. Spinal deformities were identified in 93 (16.97%) patients. The patients were subdivided into 71 (76.3%) male and 22 (23.7%) female patients. A spinal deformity was detected in 57 (13%) of 418 pectus excavatum (PE) patients, in 23 (19%) of 117 pectus carinatum (PC) patients, and in all patients with mixed pectus deformity (PE + PC), syndromic deformity and rib anomalies. In the PE group, scoliosis, and kyphosis were observed at 57.9 and 31.6%, respectively. In the PC group, these rates were 43.5 and 47.8%, respectively. Idiopathic scoliosis was observed in 42 (77.7%) and constituted the most common scoliosis subgroup. The main thoracic curvature was the most common curve pattern, which was observed in 15 (35.7%) patients with idiopathic scoliosis. Idiopathic scoliosis with main thoracic curvature is the most common deformity in patients with anterior chest wall deformity. Spinal deformities are more common in male patients with chest deformities. Kyphosis is found in a significant number of PE and PC patients. Patients with mixed PE and PC, rib anomalies, and syndromic disease are more likely to have spinal deformities.

Evaluation of congenital rib anomalies with multi-detector computed tomography in the Turkish population.

This study aimed to evaluate the congenital anomalies of ribs in the Turkish population using multi-detector computed tomography (CT) and to reveal the prevalence and distribution of these anomalies according to sexes and body sides. This study included 1120 individuals (592 male, 528 female) over 18 who presented to our hospital with a suspicion of COVID-19 and who had thoracic CT. Anomalies such as a bifid rib, cervical rib, fused rib, Srb anomaly, foramen rib, hypoplastic rib, absent rib, supernumerary rib, pectus carinatum, and pectus excavatum, which were previously defined in the literature, were examined. Descriptive statistics were performed with the distribution of anomalies. Comparisons were made between the sexes and body sides. A prevalence of 18.57% rib variation was observed. Females had 1.3 times more variation than males. Although there was a significant difference in the distribution of anomalies by sex (p = 0.000), there was no difference in terms of body side of anomaly (p > 0.05). The most common anomaly was the hypoplastic rib, followed by the absence of a rib. While the incidence of the hypoplastic rib was similar in females and males, 79.07% of the absent ribs was seen in females (p < 0.05). The study also includes a rare case of bilateral first rib foramen. At the same time, this study includes a rare case of rib spurs extending from the left 11th rib to the 11th intercostal space. This study demonstrates detailed information about congenital rib anomalies in the Turkish population, which may vary between people. Knowing these anomalies is essential for anatomy, radiology, anthropology, and forensic sciences.

Jarcho Levin Syndrome with open neural tube defect: A case report

Background: Jarcho Levin syndrome is a rare genetic disorder characterized by spine abnormalities and the absence of ribs. It is associated with various congenital malformations and carries significant morbidity and mortality. The simultaneous presentation of this syndrome with neural tube defects is seldom encountered. Case Presentation: We report a case of a 2-day-old male who presented with a lesion on his back since birth. Clinical and radiological examinations revealed thoracolumbar meningomyelocele with the absence of upper ribs on the right side and a patent foramen ovale. Subsequently, the patient underwent surgery for meningomyelocele, while the rib anomalies were managed conservatively. Conclusion: Jarcho Levin syndrome is a rare disorder, and its association with meningomyelocele is extremely uncommon. It should be considered in the evaluation of a patient with a neural tube defect and respiratory distress.

Clinical Relevance of Painful Congenital Early-onset Scoliosis: A Magnetic Resonance Image-based Study.

Back pain, as a clinical marker in scoliosis, has been associated with underlying pathology for many years, warranting further magnetic resonance imaging (MRI). Failures of segmentation, mixed defects, female gender, rib anomalies, congenital thoracic anomalies, and neurocutaneous markers are known risk factors for abnormal MRI pathology findings in patients with congenital early-onset scoliosis (Congenital-EOS). Yet, back pain has not been evaluated as a risk factor for underlying MRI pathology in patients with Congenital-EOS. This study aimed to assess back pain as a risk factor for underlying pathology in Congenital-EOS using MRI as a diagnostic tool. A retrospective database review from the Pediatric Spine Study Group (PSSG) of all patients with Congenital-EOS who reported a back pain complaint, and underwent a spinal MRI study before surgical intervention was performed. Patients were divided into those with an underlying MRI pathology and those without. Demographics were compared between groups. From a total of 2355 patients with Congenital-EOS registered in PSSG, 107 patients reported a back pain complaint, with only 42 patients fulfilling the inclusion criteria (being evaluated with an MRI study). Overall group mean age was 8.1±4.5 years, with 25 of the 42 patients (60%) being females. Twenty-four of 42 patients (57%) had a comorbidity reported such as cardiac problems, musculoskeletal complaints, neurological deficits/myelopathy, gastrointestinal symptoms, developmental delay, respiratory problems, craniofacial abnormalities, and chromosomal conditions. An underlying MRI pathology was found in 21 of 42 patients with Congenital-EOS (50%) with back pain. The underlying MRI pathologies found were tethered spinal cord, spinal canal stenosis, syringomyelia, Arnold-Chiari malformation, and arachnoid cyst. Abnormal MRI findings are common in patients with Congenital-EOS who report back pain. Gender, age, major coronal curve angle, thoracic or lumbar predominance deformity, and comorbidities type or amount were not associated with abnormal MRI findings. Level II-Prognostic study.

Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families

Introduction: Gorlin syndrome is a rare, autosomal dominant multi-systemic disorder with a predisposition to the development of cancers such as medulloblastoma and nevoid basal cell carcinoma. Heterozygous pathogenic variants in PTCH1 are responsible for 90% of Gorlin syndrome cases. Pathogenic variants in PTCH1 cause overstimulation of the sonic hedgehog signaling pathway, which plays a role in the development of embryonic structures and tumorigenesis. Clinical major and minor diagnostic criteria for Gorlin syndrome have been determined. Odontogenic keratocyst (OKC) is the most common reason for medical admission in Gorlin syndrome. In this article, it is aimed to draw attention to the fact that patients with Gorlin syndrome are not very rare in our country and the variability in phenotypic and dysmorphic findings may be a clue for the diagnosis. Methods: Exome sequencing was performed on the Illumina NextSeq550 System platform by using the Ion Ampliseq exome RDY kit for Illumina. Sanger sequencing was performed accordingly for the other affected individuals in both families. Results: In this study, the clinical and molecular findings of 9 Gorlin syndrome patients from three unrelated families are presented. Macrocephaly, calcification of falx cerebri, palmar-plantar pits, rib anomalies, and OKC were detected in decreasing order in more than half of the patients. A novel heterozygous frameshift PTCH1 variant in family 1, a nonsense previously reported PTCH1 variant in family 2, and a novel heterozygous splice-site PTCH1 variant in family 3 were detected. Conclusion: Gorlin syndrome should be kept in mind in patients presenting with macrocephaly, palmoplantar pits, and OKC history. Careful examination of all family members is essential in the timely diagnosis of other affected individuals with minor phenotypic findings.

Spondylocostal dysostosis: A rare case report

Spondylocostal dysostosis (SCD), also known as Jarcho Levin syndrome, is a rare congenital dysostosis characterized by multiple congenital vertebral and rib anomalies. The child usually presents with respiratory distress at birth with eventual development of short trunk dwarfism. Associated congenital anomalies are rare; however, they need evaluation. We report a 6-month-old Indian girl with SCD who presented with respiratory distress and an asymmetrical small thoracic cavity. The diagnosis was made with radiographs, computed tomography scans, and magnetic resonance imaging (MRI) showing multiple rib and vertebral segmentation anomalies. We would also highlight the importance of MRI in these patients and illustrate other associated brain and spine anomalies.

Radiological Methods for the Imaging of Congenital Malformations of C6-T1, the First and Second Sternal Ribs and Development of a Classification System, Demonstrated in Warmblood Horses

There are conflicting data in studies on malformations of the cervicothoracic (C-T) junction (C6 to T2, including the first and second ribs), but evidence is mounting that they can be of clinical significance for horses. The objectives of this study were to establish a radiographic protocol for imaging the C-T junction in the field and to classify the radiographic variations found in 39 warmblood horses presented for clinical evaluation due to behavioral or performance issues. Malformations of the ventral lamina of C6 and transposition onto the ventral aspect of C7 were seen in 37/39 (94.9%) horses for both conditions. Rib anomalies were found among the horses with C6 and C7 malformations. A missing first rib, unilateral or bilateral, was found in 3/35 (11.4%) horses, a unilateral shortening of the rib in 17/35 (48.6%) horses, a bilateral shortening of the ribs in 12/35 (34.3%) horses, bifid ribs in 3/35 (8.6%) horses, and only 4/35 (11.4%) horses had a normal length of the first rib on both sides. There was a moderately to highly significant association between the grades of left and right malformations of C6 and C7 and first ribs as well as between C6 and C7. A large number of malformations were visualized radiographically at the C-T junction using the newly described methods of latero-lateral and oblique radiographic projections, which allows for these features to be identified in living horses.

A rare homozygous variant in TERT gene causing variable bone marrow failure, fragility fractures, rib anomalies and extremely short telomere lengths with high serum IgE.

By whole exome sequencing, we identified a homozygous c.2086 C→T (p.R696C) TERT mutation in patients who present with a spectrum of variable bone marrow failure (BMF), raccoon eyes, dystrophic nails, rib anomalies, fragility fractures (FFs), high IgE level, extremely short telomere lengths (TLs), and skewed numbers of cytotoxic T cells with B and NK cytopenia. Haploinsufficiency in the other family members resulted in short TL and osteopenia. These patients also had the lowest bone mineral density Z-score compared to other BMF-patients. Danazol/zoledronic acid improved the outcomes of BMF and FFs. This causative TERT variant has been observed in one family afflicted with dyskeratosis congenita (DC), and thus, we also define a second report and new phenotype related to the variant which should be suspected in severe cases of DC with co-existent BMF, FFs, high IgE level and rib anomalies.

Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics

IntroductionNicotinamide adenine dinucleotide (NAD) is an essential cosubstrate/coenzyme in multiple cellular redox processes and a substrate in several non-redox reactions. NADSYN1 encodes NAD synthetase 1, an enzyme in the NAD de novo synthesis pathway and the Preiss-Handler pathway, and biallelic pathogenic variants causes NAD deficiency associated with vertebral, cardiac, renal and limb defects. Szot et al. and Kortbawi et al. have reported a total of seven patients with NADSYN1 associated congenital NAD deficiency disorder with the oldest patient being seven years old. Patient dataWe present a male patient age 30 with a height of 130 cm and numerous skeletal malformations including segmentation defects of the spine, rib anomalies and unequal leg length as well as bilateral ptosis, cleft palate and asymmetric dysmorphic facial features. The patient underwent surgery for an aortic stenosis due to a bicuspid valve. No malformations of the kidneys or urinary tract were identified. ResultsTrio exome sequencing revealed a homozygous missense variant in NADSYN1 c.1717G > A (p.Ala573Thr). Both parents were unaffected carriers of the variant. Analysis of NAD levels showed that the patient had a lower NAD pool compared to his unaffected siblings. The NAD pool rose approximately 25% after supplementation with nicotinamide, a NAD precursor for the salvage pathway. ConclusionThe variant was previously reported in four patients and functional analyses by Szot et al. support the pathogenicity of the variant. We report an adult patient with NADSYN1 associated congenital NAD deficiency disorder and expand the phenotypic spectrum. We also present analysis of the NAD levels before and after supplementation with nicotinamide.

Sprengel shoulder: a case report

Sprengel shoulder is a rare deformity of shoulder girdle of unknown etiology. Eulenburg in 1863, had first reported this rare congenital anomaly of the scapula. Sprengel described it in 1891, and hence this deformity got its’ name. Autosomal dominant inheritance has been reported for this abnormality. Abnormal descent of the scapula during 9th to 12th weeks of gestation leads to this congenital anomaly. It is a cosmetic deformity. Elevation of scapula is the characteristic feature. A lump at the back of the neck with restricted movements of the shoulder and or arm are the presenting finding. The affected scapula is rotated on its sagittal axis. The superior and the vertebral border comes nearer to the medial line and to the axilla respectively. Severity of this deformity varies widely being almost invisible when covered with clothes to the shoulder being elevated over 5 centimeters along with the presence of webbing of neck. This congenital deformity can be associated with other musculoskeletal abnormalities such as Klippel-Feil syndrome, scoliosis and rib anomalies. In 30% of cases of Sprengel shoulder, an omovertebral cartilaginous, fibrous or bony bar connecting superomedial border of scapula to spine, transverse process or lamina of cervical vertebra can be seen and this causes restriction of movements around the shoulder girdle. Surgical management is considered in severe cases. Surgical management involves excision of the protruding portion of scapula and inferior translation of scapula. This enhances shoulder functions as well as general appearance of the patient.

Bronchiectasis without lower respiratory symptoms in the presence of multisystem anomalies – a clinical clue to diagnose esophageal lung anomaly

Esophageal lung is a type of Group-II communicating bronchopulmonary foregut malformations (CBPFM) usually diagnosed beyond neonatal period during investigation for recurrent respiratory symptoms and persistent radiographic features suggesting pneumonia or bronchiectasis. In our case, we noticed bronchiectasis and disproportionately severe volume loss in an infant with associated multisystem anomalies in the absence of "significant" lower respiratory tract symptoms. A detailed evaluation with repeat imaging confirmed a Group-II CBPFM, a congenital pathology instead of an infective cause. Pneumonectomy is a more prudent option instead of undertaking major airway reconstruction for the dysplastic "dysfunctional" tissue. Amongst the various associated anomalies reported till now, the associated rib and renal anomalies noted by us have not been described earlier to the best of our knowledge.

Redo surgery for neurogenic thoracic outlet syndrome is useful

ObjectivesSurgery for neurogenic thoracic outlet syndrome (NTOS) has shown good outcome in numerous case series. However, 5% to 30% of patients will have persistent or recurrent symptoms, caused by incomplete first rib resection, reattachment of residual scalene muscle, fibrous scarring around the brachial plexus, or a wrong NTOS diagnosis. In patients with a sound diagnosis of recurrent or persisting NTOS, not responding to conservative measures, a secondary procedure can be considered. We report the results of redo thoracic outlet decompression surgery through the supraclavicular approach (SC-REDO-TOD) for persistent or recurrent NTOS. MethodsA retrospective review of a prospective database was performed. Every patient referred from September 2016 until January 2020 was eligible for inclusion. In an SC-REDO-TOD, we perform complete (cartilage-cartilage) resection of the first rib, any bony and fibrous anomalies, complete anterior and middle scalenectomy, and complete neurolysis of the brachial plexus (complete anatomical decompression of the brachial plexus). Clinical outcomes were assessed by questionnaires including the Disability of Arm, Shoulder and Hand (DASH), Cervico-Brachial Symptoms Questionnaire (CBSQ), and TOS (thoracic outlet syndrome) Disability scale. ResultsIn total, 45 patients had a SC-REDO-TOD. The median duration of hospital admission after SC-REDO-TOD was 1.41 days (interquartile range, 1.00 day). In total, 30 (66.66%) of 45 patients had recurrent NTOS, and 15 (33.33%) of 45 patients had persisting NTOS. Postoperative complications were seen in eight patients (18.18%). One patient had postoperative complications with permanent impairment (Horner syndrome). Seven patients had postoperative complications with full recovery (three patients had a chylous leakage that was treated with a median-chain triglycerides diet for 6 weeks, three patients had transient phrenic nerve palsy with full recovery <6 weeks, and one patient had a discrete Horner syndrome that resolved in 6 weeks). The median time of follow-up was 19.50 months (interquartile range, 14.00 months) and the response rate to the questionnaires was 91.11% at 6 months and 64.44% at 12 months. We found a positive and statistically significant difference for DASH score, CBSQ score, and TOS Disability Scale score comparing scores for all patients. (DASH score: P < .001; CBSQ score: P < .001; TOS Disability Scale: P < .001). Patients with first rib remnants showed a significant better response (lower DASH, CBSQ and TOS Disability Scale scores) compared with patients without first rib remnants (DASH score: P = .004; CBSQ score: P ≤ .014; TOS Disability Scale: P = .009). ConclusionsSC-REDO-TOD after a previous NTOS surgery shows good results with a low risk of permanent impairment. Patients with NTOS with first rib remnants after primary surgery seem to benefit the most from SC-REDO-TOD surgery.

EP080: A rare case of mosaic trisomy 15 with chylothorax

eP080: A rare case of mosaic trisomy 15 with chylothorax

Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review

Diaphonospondylodysotosis (DSD) and ischiospinal dysostosis (ISD) are rare skeletal dysplasias with variants in the bone morphogenetic protein-binding endothelial regulator (BMPER). There is a continuum of clinical presentation, with DSD at the severe end of the spectrum whilst ISD is towards the milder end. Both are caused due to pathogenic variants in BMPER. Previous studies have reported 20 patients from 13 families. Common features in the cohort reported so far are spinal and rib anomalies but other findings illustrate phenotypic variation. Survival ranges from death within the neonatal period to alive and well at 19 years. We present three siblings with variable phenotype, adding to the evidence for a single definition of BMPER-related skeletal dysplasia. We highlight the need for ongoing care planning and guarded prognostication, with regular review by clinical teams.

A new association of Oculoauriculovertebral spectrum and persistent fifth aortic arch -double lumen aorta: a case report

BackgroundOculo-auriculo-vertebral spectrum is a heterogeneous group of genetic disorder, also known as Goldenhar Syndrome, which has several phenotypic features including craniofacial anomalies, cardiac, vertebral and central nervous system defects. Cardiovascular anomalies include ventricular septal defects, atrial septal defects, patent ductus arteriosus, Tetralogy of Fallot, double outlet right ventricle, aberrant right subclavian artery, coarctation of aorta, transposition of the great arteries, double inlet left ventricle, cor triatriatum, pulmonary artery stenosis, aortic stenosis, persistent left superior vena cava, partially or totally abnormal pulmonary venous return and bicuspid aortic valve. Persistent fifth aortic arch, also named as double lumen aortic arch, is a very rare cardivascular anomaly and usually associate other cardiac defects.Case presentationWe present a 7 month old patient with oculo-auriculo-vertebral spectrum signs as facial asymmetry, short neck, choanal atresia, cleft palate, bilateral preauricular skin tags, bilateral hypoplastic ear lobes, epibulbar dermoid cyst, rib, vertebrae and cardiovascular anomalies. Cardiovascular anomalies detected with echocardiography and computed tomography were malalignment ventricular septal defect and double lumen aorta, known as persistent fifth aortic arch.ConclusionVarious cardiovascular anomalies may accompany Goldenhar Syndrome. We present a case with persistent fifth aortic arch and Oculo-auriculo-vertebral spectrum and this is a new association that was not reported before in the literature.

A case report of severe scoliosis in a boy with goldenhar syndrome

Goldenhar syndrome is a condition comprising various congenital anomalies of structures developing from the first and second branchial arches. Classically, it includes impaired development of structures such as eyes, ears, lips, tongue, palate, mandible, maxilla, and vertebral anomalies. The etiology for this syndrome is not clear; however, genetic and many other causes have been described for the development of the abovementioned anomalies. A 13-year-old boy presented with deformity of the back since birth, which is gradually progressing, now causing difficulty in breathing on exertion. Parents give a history of anomalies of the eyes, ear, face, and deformities of the neck and chest since birth. X-ray, computed tomography, and magnetic resonance imaging of the spine showed severe congenital scoliosis with multiple vertebral and rib anomalies with no intraspinal anomalies or spinal cord malformations. Posterior scoliosis correction and fusion with convex side costoplasty were performed after a detailed preoperative workup in view of syndromic etiology. Postoperatively, the boy was stable and the check X-ray showed satisfactory deformity correction. Severe scoliosis with Goldenhar syndrome always throws a challenge to treating spine surgeons as they are associated with multiple other regional and systemic abnormalities. A detailed examination, preoperative clinical and radiological workup, and proper planning are very much essential in treating these deformities.

Conservative management of odontogenic keratocyst by marsupialization

Odontogenic keratocyst (OKC) is a locally aggressive intraosseous tumor of odontogenic origin, associated with syndromes such as nevoid basal cell carcinoma syndrome. Also known as Gorlin syndrome, it is an autosomal dominant inherited condition. The disease is characterized by multiple basal cell carcinomas of the skin, multiple keratocystic odontogenic tumors, rib anomalies, and palmar and plantar pits. This article reviews a 3-year follow-up case that we have reported in the Dental University Hospital OMFS clinic at King Saud University, Riyadh, Saudi Arabia. The patient was a 13-year-old female that has been diagnosed with Gorlin–Goltz syndrome in 2018. She had multiple radiolucent lesions, two mandibular OKC, and maxillary dentigerous cyst. The extensive left OKC was treated with marsupialization followed by enucleation. Optimal results with low recurrence rate have been shown after using the marsupialization followed by enucleation and curettage, which agree with the present case results. Unfortunately, there is no gold standard or concrete recommendations that emphasize particular treatment modality. Nevertheless, this approach is considered effective and less invasive in treating OKCs, reducing the lesion size by drainage and decompression up to 47% of the initial size, allowing the preservation of critical anatomical structures. Furthermore, marsupialization prior to enucleation is an appropriate approach in young patients because it is the least treatment modality that interferes with the developmental process of jaws.

Jarcho-Levin syndrome term baby with recurrent apnea

Jarcho-Levin syndrome or spondylocostal dysostosis, is a rare axial skeleton anomaly due to mutation in genes involved in somitic segmentation during embryogenesis. We describe a term, newborn baby with antenatally detected midthoracic lordotic deformity with skeletal features of multiple rib anomalies and vertebral defects, but with normal limb lengths. Baby had recurrent apnea requiring non-invasive ventilation and was successfully weaned to room air within 2 days. This syndrome is underdiagnosed and we wish to highlight the simple process involved in making a clinico-radiological diagnosis.

Prevalence of congenital scoliosis in infants based on chest–abdomen X-ray films detected in the emergency department

To investigate the prevalence of congenital scoliosis (CS) in infants based on chest-abdomen radiographs. A retrospective review was conducted on infants in the emergency department (ED) of a tertiary children's hospital between February 2008 and September 2019. Patients who had undergone chest-abdomen X-rays were included. All films from the enrolled patients were screened for CS. Their demographic characteristics, type, and location of the vertebral and rib anomalies, and concomitant defects of other systems were analyzed. In total, 50,426 infants were enrolled; 89 (1.8‰) were diagnosed with CS, including 56 males and 33 females. There was no gender difference in CS prevalence. The visiting age of the CS patients (70 ± 98days) was significantly younger than that of the non-CS group (P < 0.05), with CS patients mainly visiting for digestive (53.9%) and respiratory symptoms (41.6%). Sixty-eight (76.4%) CS patients had main thoracic (T6-T11) vertebral malformations. Rib anomalies were documented in 27 (30.3%) patients, of which 14 had complex rib anomalies. Forty (44.9%) patients had concomitant defects of other organs, of which eight patients had two systemic abnormalities mixed. The most common extraspinal defects were imperforate anus (21, 23.6%) and congenital cardiac defects (17, 19.1%). The prevalence of CS in infants based on chest-abdomen X-rays in the ED was 1.8‰. Both the vertebral and rib anomalies mainly affected the main thoracic region. The spine deformities in infants with concomitant defects of other organs could be identified earlier because of early-onset symptoms, which also bring out a selection bias in our analysis.