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.

The relationship between mitral valve prolapse and thoracic skeletal abnormalities in clinical practice: a systematic review.

BACKGROUND: Literature data suggest high inter-study variability in mitral valve prolapse (MVP) prevalence among individuals with thoracic skeletal abnormalities (TSA). This systematic review aimed at estimating the overall prevalence of MVP in individuals with the most common TSA, including not only the oldest studies (before the year 2000) but also the most recent ones (after the year 2000). METHODS: PubMed and EMBASE databases were systematically reviewed in November 2023. Studies assessing the relationship between MVP and TSA and estimating the MVP prevalence in pectus excavatum (PE), pectus carinatum (PC), scoliosis, straight back syndrome (SBS) and Marfan syndrome (MS) were included. There was no limitation on time periods. RESULTS: Twenty-five studies with a total of 2800 patients (27.9 ±â€Š13.9 years, 48.2% females) were analyzed. The highest prevalence of MVP was observed among MS patients (47.3%), while the lowest was detected in PC individuals (23%). Prevalence of MVP was similar among PE (30.8%), scoliosis (26.3%) and SBS (25.5%) patients. When dividing the studies on the basis of temporal period, the average MVP prevalence was approximately two-fold higher in all studies conducted before the year 2000 in comparison with the most recent ones, regardless of TSA type. This discrepancy might be primarily ascribed to relevant differences in the echocardiographic criteria employed for MVP diagnosis before (less specific) and after (more specific) the year 2000, respectively. CONCLUSIONS: The estimated MVP prevalence in TSA individuals is significantly higher than that observed in the general population. Individuals with TSA should be screened for MVP presence on transthoracic echocardiography.

A systematic review of maternal diabetes and congenital skeletal malformation.

The magnitude of association of skeletal anomalies with maternal diabetes is not known. The systemic review was done to detect the frequency of congenital skeletal malformations with diabetes mellitus in pregnancy in the literature evidence of the past 50 years. Literature on maternal diabetes and skeletal malformation was searched by two independent authors by following PRISMA guidelines. Strict inclusion and exclusion criteria were followed. After quality assessment, 21 original articles were included. The frequency of congenital malformation, skeletal malformation was extracted from the included studies. 11,574 congenital anomalies were detected diabetic mothers. 1182 skeletal anomalies were noted in 20,11 552 diabetic mothers. The skeletal malformation was noted in 20.4% of total anomalies. The most common skeletal malformation was the defect of the spine (39.9%). The limb deficiency was found in 32.8% of the infants of diabetic mothers. The skeletal malformations were higher, that is, 24.6% in pre-gestational diabetes. The incidence of skeletal malformation from the evidence was 1.5% (range: 0.03-4.27%) in maternal diabetes. Pre-gestation diabetes is more frequently associated with skeletal malformations, which is 1.9% (range: 0.07-5.89%). The association of congenital malformations and skeletal malformations in diabetic pregnancy is significant and hence, effective management of diabetes in childbearing age is essential to reduce this incidence and related long-term morbidity.

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.

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.

The mystery of monozygotic twinning II: What can monozygotic twinning tell us about Amyoplasia from a review of the various mechanisms and types of monozygotic twinning?

Monozygotic (MZ) twins ("identical twins") are essentially unique to human beings. Why and how they arise is not known. This article reviews the possible different types of MZ twinning recognized in the previous article on twins and arthrogryposis. There appear to be at least three subgroups of MZ twinning: spontaneous, familial, and those related to artificial reproductive technologies. Each is likely to have different etiologies and different secondary findings. Spontaneous MZ twinning may relate to "overripe ova." Amyoplasia, a specific nongenetic form of arthrogryposis, appears to occur in spontaneous MZ twinning and may be related to twin-twin transfusion.

Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies.

The RASopathies are a group of similar genetic syndromes with cardiovascular abnormalities, characteristic facial features, short stature, abnormalities of the skin and musculoskeletal system, and variable neurodevelopmental challenges. The most common cardiovascular abnormalities include pulmonary valvular stenosis and hypertrophic cardiomyopathy. Congenital polyvalvular disease (CPVD) refers to congenital dysplasia of two or more cardiac valves. We diagnosed a RASopathy in two individuals with CPVD and noted that CPVD in RASopathies has rarely been reported in the literature. Thus, we performed a retrospective chart review and literature review to investigate the association and characterize the phenotype of CPVD in the RASopathies. CPVD was present in 2.5% (n = 6/243) of individuals in our RASopathy cohort. Involvement of two cardiac valves, commonly the aortic and pulmonic valves, was seen in the majority of individuals (6/8; 75%) in our cohort, but only 27% (3/11) of reported CPVD and RASopathy cases in the literature. CPVD should be considered an associated cardiovascular phenotype of the RASopathies, which has implications for diagnosis and management.

Skeletal deformities and meristic trait variations are common in the intertidal fish Bathygobius cocosensis (Perciformes-Gobiidae).

Extreme environmental conditions, such as temperature, can lead to meristic trait variation and skeletal deformities, which may have major impacts on individual fitness. As intertidal ecosystems experience rapid temperature and physicochemical fluctuations, intertidal fish living and reproducing in these environmental conditions may have phenotypes influenced by such variable environments. The impact of intertidal variability on fish development, however, has not been previously investigated. Skeletal deformities and meristic traits were assessed for Bathygobius cocosensis, a common intertidal fish living across the Indo-Pacific region, using a clearing and staining method on 72 individuals. Over 87% of individuals presented meristic variation and over 70% exhibited at least one type of skeletal deformity, mostly recorded in the caudal fin area. The unexpected prevalence of skeletal deformities among this intertidal fish population suggests that such deformities may be suitable markers to evaluate an individual's stress exposure during development and the subsequent fitness effects.

Determination of congenital absence of palmaris longus tendon with clinical examination and ultrasonography.

OBJECTIVES: The tendon of the palmaris longus is commonly used as a tendon graft in many reconstructive surgeries. Palmaris longus absence (PLA) was found in 15% among individuals worldwide. In this prospective study, we aimed to conduct an incidence study in which physical examination methods were confirmed by ultrasonography in PLA, and to evaluate the relationship of absence with age, gender, laterality and dominant hand. METHODS: The study included 490 cases. They were initially tested to evaluated by physical examination using the Schaeffer's and Hiz-Ediz test for the assessment of the palmaris longus tendon. Additional ultrasonography was performed to confirm its absence in 129 wrists of 78 cases whose tendons could not be visualized or palpated. RESULTS: The incidence of tendon absence was 13% by physical examination methods. According to the final results when we added ultrasonography to physical examination methods, the incidence of unilateral, bilateral and overall absence of the palmaris longus were 5%, 9% and 11% respectively. There was no statistically significant difference between individuals with and without PLA in terms of gender, side, age and dominant hand (p = 0.796, p = 0.622, p = 0.397 and p = 0.187, respectively). However, bilateral PLA was statistically significantly higher than unilateral in both genders (p = 0.011). CONCLUSIONS: We think that agenesis should be proven accurately by ultrasonographic examination for the final result before any surgical procedure with palmaris longus tendon. Furthermore measuring the diameter of the palmaris longus tendon by preoperative ultrasonography can be useful for surgeons who plan a procedure that requires specific measurements.

Maternal use of fluconazole and congenital malformations in the progeny: A meta-analysis of the literature.

Fluconazole is a bis-triazole agent used in the treatment of superficial and systemic fungal infections, with vaginal candidiasis being one of the commonest indications to fluconazole treatment. There is increasing concern regarding the teratogenic potential of fluconazole. The aim of this meta-analysis is to pool the literature data in order to evaluate the possible association between fluconazole exposure during pregnancy and birth defects. A total of nine studies were included in the meta-analysis. Results were expressed as odds ratios (OR) with 95 % confidence intervals (CI) and statistical heterogeneity between the studies was evaluated with Higgins index (I2) and Q-test (Q). A p-value < 0.05 referred to the effect was considered statistically significant. The maternal exposure to fluconazole during the first trimester of pregnancy is correlated with increased prevalence of heart defects in the offspring for both low dose (OR 1.95, 95 % CI 1.18-3.21; P = 0.01) and any dose (OR 1.79, 95 % CI 1.18-2.71; P = 0.01). No association was found between gestational exposure to fluconazole and increased risk of spontaneous abortion or stillbirth. Fluconazole should be regarded as a human teratogen and should be cautiously prescribed to pregnant women and to women of childbearing potential.

Population-level assessment of atlas occipitalization in artificially modified crania from pre-Hispanic Peru.

Atlas occipitalization (AO) is a spinal anomaly, characterized by the fusion of the first cervical vertebra and occipital bone, with a complex etiology that can arise from congenital and environmental causes. AO has been reported in three regions of pre-Hispanic Peru in skeletal remains with artificial cranial modification (ACM), which involves the use of compression devices to permanently alter cranial shape and may have affected the fusion of the atlas and occipital bone. The aims of this study were to gain insights into AO's etiology by testing correlations between AO and ACM presence/type and geographic region as well as to characterize morphological variation associated with AO. We investigated the geographic distribution of AO and its potential relationship to ACM in a large sample of human crania from eight coastal and highland regions of pre-Hispanic Peru, held at the Smithsonian's National Museum of Natural History (n = 608, 1300-1500 CE). Eleven cases of AO were observed in three coastal regions-including two previously unreported regions-at an overall frequency of 1.8%. The frequency of AO did not differ significantly between crania with and without ACM, in general or by type, suggesting that ACM is not an etiological factor that influences AO in this sample. AO was observed at a significantly higher rate in the southern coastal region of Arequipa than in any other region. Genetic, dietary, and epidemiological conditions are evaluated as factors possibly shaping the geographic distribution of AO along the central and southern coasts of Peru.

Prevalence and associated factors of birth defects among newborns in sub-Saharan African countries: a systematic review and meta-analysis.

INTRODUCTION: Birth defects are the most serious causes of infant mortality and disability in sub-Saharan African countries with variable magnitude. Hence, this study was aimed to determine the pooled prevalence of birth defects and its associated risk factors among newborn infants in sub-Saharan African countries. METHODS: A total of 43 eligible studies were identified through literature search from Medline (PubMed), EMBASE, HINARI, Google scholar, Science Direct, Cochrane Library and other sources. Extracted data were analyzed using STATA 15.0 statistical software. A random effect meta-analysis model was used. RESULTS: Twenty-five studies in 9 countries showed that the pooled prevalence of birth defects was 20.40 per 1,000 births (95% CI: 17.04, 23.77). In the sub-group analysis, the highest prevalence was observed in southern Africa region with a prevalence of 43 per 1000 (95% CI: 14.89, 71.10). The most prevalent types of birth defects were musculo-skeletal system defects with a pooled prevalence of 3.90 per 1000 (95% CI: 3.11, 4.70) while the least was Down syndrome 0.62 per 1000 (95% CI: 0.40, 0.84). Lack of folic acid supplementation (95% CI: 1.95, 7.88), presence of chronic disease (95% CI: 2.00, 6.07) and intake of drugs (95% CI: 3.88, 14.66) during pregnancy were significantly associated with the birth defects. CONCLUSION: The prevalence of birth defects is relatively high with high degree of regional variabilities. The most common types of birth defects were musculoskeletal defects. Lack of folic acid supplementation, presence of chronic disease and intake of drugs during pregnancy were significantly associated with birth defects.

Pattern of congenital hand anomalies at a tertiary plastic surgery service in South-Western Nigeria: A 10-year, cross-sectional retrospective review.

CONTEXT: Although congenital hand anomalies are among the more common musculoskeletal anomalies worldwide, we do not know its prevalence in our practice. AIMS: The aim of the study was to determine the pattern of congenital hand anomalies presenting to our tertiary plastic surgery outpatient service in South-Western Nigeria. MATERIALS AND METHODS: This is a cross-sectional retrospective analysis of outpatient cases of congenital hand anomalies presenting over a 10-year period. Descriptive and inferential statistics were performed using frequencies, Student's t-test and Chi-square as appropriate. The data were analysed using IBM SPSS Statistics 23.0. The statistical significance value was set at P < 0.05. RESULTS: One hundred and twenty-two cases were identified. The highest number of cases was seen in the year 2012, 23 patients (19.3%). There was a male preponderance of 66 patients (55.1%). Thirty-two patients (26.2%) presented as neonates and 36 (29.5%) as infants. Bilateral anomalies were seen in 67 patients (54.9%). The most common anomaly was failure of differentiation, 88 patients (72.1%) followed by duplication, 26 patients (21.3%). Syndactyly with 43 patients (35.2%) was the most common anomaly under failure of differentiation. No significant associations were found between the type of anomaly and gender or laterality. CONCLUSIONS: Syndactyly was the most common congenital hand anomaly in this study. There was a preponderance of bilateral involvement in both syndactyly and polydactyly.

Prevalence of congenital malformations and deformities of the osteomuscular system in live newborns in Mexico, 2008-2017.

BACKGROUND: From 2009 to 2010 in Mexico. CMDOMS prevalence was 27.4/10,000 births. The first places were congenital deformation of the feet with a prevalence of 8.0 and congenital deformation of the hip with 6.7/10,000 births. OBJECTIVE: To estimate for Mexico the national prevalence of CMDOMS in live births, by state and municipality, as well as to analyze spatial distribution by these same territorial delimitations. METHOD: A database of 20,175,422 newborns (NB) alive from 2008 to 2017 was integrated. Percentages and prevalence were calculated at the national level, federal entities and municipalities, with confidence intervals at 95%. Maps were made and prevalence was stratified. RESULTS: The congenital malformation prevalence rate was 77.8/10,000 NB. CMDOMS were in first place with 40.8% and a prevalence of 31.8/10,000 NB. Prevalence by federal entity presented a range of 8.0-75.8/10,000 NB, were stratified by states and municipalities for presentation on maps. CONCLUSION: In Mexico for the years 2008-2017 an increase in CMDOMS prevalence was observed globally and in particular of some specific causes.

ANTECEDENTES: En México, de 2009 a 2010, la prevalencia de las malformaciones y deformidades congénitas del sistema osteomuscular (MDCSOM) fue de 27.4 por 10,000 nacimientos. Los primeros lugares los ocuparon la deformación congénita de los pies, con una prevalencia de 8.0, y la deformación congénita de la cadera, con 6.7 por 10,000 nacimientos. OBJETIVO: Estimar para México la prevalencia nacional de MDCSOM en nacidos vivos (NV), por entidad federativa y municipio, y analizar su distribución espacial por esas mismas delimitaciones territoriales. MÉTODO: Se integró una base de datos de 20,175,422 NV en 2008-2017. Se calcularon porcentajes y prevalencias por ámbito nacional, entidades federativas y municipios, con intervalos de confianza al 95%. Se elaboraron mapas y se estratificaron las prevalencias. RESULTADOS: La tasa de prevalencia de malformaciones congénitas fue de 77.8 por 10,000 NV. Se ubicaron en el primer lugar las MDCSOM, con un 40.8% y una prevalencia de 31.8 por 10,000 NV. Las prevalencias por entidad federativa presentaron un rango de 8.0 a 75.8 por 10,000 NV; se estratificaron por estados y municipios para su presentación en mapas. CONCLUSIÓN: En México, para los años 2008-2017, se observa un incremento en las prevalencias de las MDCSOM en forma global y en particular por algunas causas específicas.

Oral fluconazole use in the first trimester and risk of congenital malformations: population based cohort study.

OBJECTIVE: To examine the risk of congenital malformations associated with exposure to oral fluconazole at commonly used doses in the first trimester of pregnancy for the treatment of vulvovaginal candidiasis. DESIGN: Population based cohort study. SETTING: A cohort of pregnancies publicly insured in the United States, with data from the nationwide Medicaid Analytic eXtract 2000-14. PARTICIPANTS: Pregnancies of women enrolled in Medicaid from three or more months before the last menstrual period to one month after delivery, and infants enrolled for three or more months after birth. INTERVENTIONS: Use of fluconazole and topical azoles was established by requiring one or more prescriptions during the first trimester of pregnancy. MAIN OUTCOME MEASURES: Risk of musculoskeletal malformations, conotruncal malformations, and oral clefts (primary outcomes), associated with exposure to oral fluconazole, diagnosed during the first 90 days after delivery, were examined. RESULTS: The study cohort of 1 969 954 pregnancies included 37 650 (1.9%) pregnancies exposed to oral fluconazole and 82 090 (4.2%) pregnancies exposed to topical azoles during the first trimester. The risk of musculoskeletal malformations was 52.1 (95% confidence interval 44.8 to 59.3) per 10 000 pregnancies exposed to fluconazole versus 37.3 (33.1 to 41.4) per 10 000 pregnancies exposed to topical azoles. The risks of conotruncal malformations were 9.6 (6.4 to 12.7) versus 8.3 (6.3 to 10.3) per 10 000 pregnancies exposed to fluconazole and topical azoles, respectively; risks of oral clefts were 9.3 (6.2 to 12.4) versus 10.6 (8.4 to 12.8) per 10 000 pregnancies, respectively. The adjusted relative risk after fine stratification of the propensity score was 1.30 (1.09 to 1.56) for musculoskeletal malformations, 1.04 (0.70 to 1.55) for conotruncal malformations, and 0.91 (0.61 to 1.35) for oral clefts overall. Based on cumulative doses of fluconazole, the adjusted relative risks for musculoskeletal malformations, conotruncal malformations, and oral clefts overall were 1.29 (1.05 to 1.58), 1.12 (0.71 to 1.77), and 0.88 (0.55 to 1.40) for 150 mg of fluconazole; 1.24 (0.93 to 1.66), 0.61 (0.26 to 1.39), and 1.08 (0.58 to 2.04) for more than 150 mg up to 450 mg of fluconazole; and 1.98 (1.23 to 3.17), 2.30 (0.93 to 5.65), and 0.94 (0.23 to 3.82) for more than 450 mg of fluconazole, respectively. CONCLUSIONS: Oral fluconazole use in the first trimester was not associated with oral clefts or conotruncal malformations, but an association with musculoskeletal malformations was found, corresponding to a small adjusted risk difference of about 12 incidents per 10 000 exposed pregnancies overall.

The Prevalence of Abnormalities in the Pediatric Spine on MRI: A Systematic Review and Meta-Analysis.

STUDY DESIGN: Systematic review and meta-analysis. OBJECTIVE: The aim of this study was to provide an overview of the prevalence of reported musculoskeletal abnormalities on magnetic resonance imaging (MRI) of the pediatric spine. SUMMARY OF BACKGROUND DATA: Back pain is a common complaint and significant health issue, already in children. Several studies have investigated musculoskeletal abnormalities of the pediatric spine as possible cause of low back pain (LBP). However, it is not clear which abnormalities are the most prevalent among children. METHODS: A systematic literature search on the prevalence of musculoskeletal spinal abnormalities on MRI in children was conducted in the Embase, Medline Ovid, and Cochrane CENTRAL databases. Risk of bias (RoB) was assessed using a checklist based on the Downs and Black checklist. General information on study and patient characteristics and the prevalence of spinal abnormalities were extracted from the studies. Prevalence data were presented in three subgroups: nonathletes without LBP, participants with LBP, and athletes. Prevalence data of the most reported abnormalities were pooled using random-effects proportion meta-analysis. The study protocol was prospectively registered in PROSPERO (CRD42017080543). RESULTS: The search resulted in 16,783 articles, of which 31 articles (2373 participants) were included in this systematic review. Two-thirds of the studies had a low RoB. The pooled prevalence in nonathletes without LBP, participants with LBP, and athletes without LBP was respectively 22%, 44%, and 22% for disc degeneration, 1%, 38%, and 13% for herniated discs, 5%, 22%, and 11% for endplate changes, and 0%, 30%, and 6% for pars fractures. CONCLUSION: Disc degeneration, herniated discs, endplate changes, and spondylolysis are the most reported spinal abnormalities on MRI in children in literature. Spinal abnormalities seen in adults are already prevalent in children with LBP, with the highest prevalence for disc degeneration and herniated discs. LEVEL OF EVIDENCE: 2.

Sprengel Deformity: Comprehensive Evaluation of Concomitant Spinal and Extraspinal Anomalies in 90 Patients.

STUDY DESIGN: A retrospective, case series. OBJECTIVE: The aim of this study is to evaluate the concomitant anomalies in patients with Sprengel deformity (SD). SUMMARY OF BACKGROUND DATA: SD is the most common congenital anomaly of the shoulder. One or more associated anomalies may coexist in SD patients, similar to congenital scoliosis (CS); however, these anomalies and their relationship have not been studied in detail previously. METHODS: SD patients who have applied to our institution between 2005 and 2019 were retrospectively reviewed. The patients were evaluated clinically and radiologically. The patients were divided in two groups as SD patients with CS and without CS, to analyze if these anomalies are present due to CS or SD. Physical examination findings, MRI, CT, and USG reports were analysed for accompanying pathologies. Patients with missing data were excluded. Student-t and Fisher's exact tests were used to compare the groups. Significance value was set as p = 0.05. RESULTS: Ninety patients met inclusion criteria. The most common spinal anomaly was omovertebra, followed by spina bifida and Klippel-Feil. Tethered cord and diastematomiyelia were associated with CS (P = 0.0026 and P = 0.0057, respectively). The most common extra-skeletal anomaly was rib anomalies, followed by urinary and cardiac system anomalies. Rib anomalies were associated with CS (P = 0.00001). CONCLUSION: Concomitant anomalies may accompany SD. The prognosis of SD may be affected by these anomalies. Therefore, patients should be evaluated for possible coexistent congenital anomalies. LEVEL OF EVIDENCE: 4.

Expanding the phenotypic and genotypic spectrum of Wiedemann-Steiner syndrome: First patient from India.

Wiedemann-Steiner syndrome (WWS) is a rare disorder characterized by hypotonia, postnatal growth restriction, striking facial dysmorphism, and hirsutism. It is caused by heterozygous pathogenic variants in KMT2A. This gene has an established role in histone methylation, which explains the overlap of WWS with syndromes caused by genes involved in chromatin remodeling. We describe an infant with a novel single base pair deletion in KMT2A with features consistent with WWS, as well as additional features of stenosis of aqueduct of Sylvius and broad toes. The usefulness of Face2Gene as a tool for identification of dysmorphology syndromes is discussed, as in this patient, it suggested WWS as the top candidate disorder. To the best of our knowledge, this is the first patient of WWS reported from India, with a novel genotype and expanded phenotype.

Congenital pelvic skeletal anomalies: Clinical and radiographic evaluation of newborns with gastrointestinal malformation.

BACKGROUND: Congenital pelvic skeletal anomalies (CPSA) may appear as isolated defects or in association with other anomalies like congenital malformations of the digestive system (CMDS). Minor CPSA in non-syndromic patients are often overlooked. We aimed to assess the frequency of CPSA in newborns with CMDS to review the diagnostic approaches. STUDY DESIGN: A retrospective review of medical records of 201 newborns who underwent X-rays for different neonatal indications was conducted. In 122 patients CMDS were diagnosed and classified according to the ICD-10 classification; 79 non-CMDS patients acted as controls. Pelvic skeletal segments were examined by X-rays. RESULTS: Patients with CMDS, showed a higher risk of CPSA (Odds ratio 2.89; 95% CI 1.34 6.23) and other associated malformations in comparison to non-CMDS patients. Newborns with malformations of the large intestine have the highest risk of adjacent CPSA (48%), as it is a developmental defect originating from the same somite. In addition to skeletal agenesis/hypoplasia, we reported dysmorphic and bifid vertebras, trident ileum, and elongated neural arches. CONCLUSIONS: The high incidence of CPSA in CMDS suggests performing a routine radiographic pelvic evaluation in cases of CMDS in order to identify complex phenotypes that could originate from the same developmental field.

Prevalence and Clinical Significance of Incidental Vertebral Marrow Signal Abnormality in Thoracolumbar Spine MRI.

STUDY DESIGN: A cross-sectional study. OBJECTIVE: This study investigates the prevalence of incidental vertebral marrow signal abnormality (VMSA) in thoracolumbar spine magnetic resonance imaging (MRI) ordered for the evaluation of back and/or leg pain and assess the clinical work-up for VMSAs. SUMMARY OF BACKGROUND DATA: Patients presenting with back pain are often referred for spine MRI for diagnostic evaluation. VMSA is most frequently found in the lumbar spine and is of clinical concern because it can represent malignancy. Standardized procedures for reporting and managing VMSAs do not exist. METHODS: The radiology database at the Oregon Health & Science University health system was queried to identify patients with thoracolumbar spine MRI scans performed between January 2014 and June 2016. Patients 16 years or older with MRIs ordered by providers at a multidisciplinary spine specialty clinic for the diagnostic evaluation of back and/or leg pain were included. Radiology reports were searched for keywords pertaining to VMSAs, such as "malignancy." Medical records of these patients were further reviewed for the clinical work-up and final diagnoses pertaining to the VMSA. RESULTS: The study sample included 1503 individual patients, of whom 65 (4%) had MRI radiology reports that described a VMSA. Thirty-one (48%) of the 65 patients with VMSAs had further evaluation recommended by radiology. Ten (32%) of these 31 patients were followed clinically without further diagnostic testing for the VMSA. Of the 65 patients with VMSAs, only one was diagnosed with malignancy (multiple myeloma). CONCLUSION: While VMSAs are not frequently found on thoracolumbar MRIs ordered to evaluate back and/or leg pain, there is a large amount of heterogeneity in how these abnormalities are documented and managed. This may indicate the need for clinical guidelines for the reporting and management of VMSAs detected on spine MRI and for improvement in communication between radiologists and ordering providers. LEVEL OF EVIDENCE: 3.