Congenital musculoskeletal and limb deformities (CMLD) seriously affect the physical and mental health of patients, and pose great challenges to healthcare systems worldwide. We explored the specific situation and changes of incidence, prevalence, disability-adjusted life years rates, and mortality of CMLD in under-5 children from 1990 to 2021 in different groups, including different regions, periods, genders and socio-demographic indices (SDI), through corresponding analytical models. Overall, the global disease burden of CMLD in under-5 children has decreased from 1990 to 2021. The disease burden of CMLD in under-5 children varied significantly among different regions and countries, and there was a strong correlation between the corresponding burden of disease and the level of SDI. In addition, cross-country inequality analysis showed that while absolute inequalities in the disease burden of CMLD in under-5 children have improved, relative inequalities have worsened. It is essential to reduce the global health impact of CMLD by implementing targeted interventions to improve health care in underdeveloped areas.
Humans ; Global Burden of Disease/trends* ; Child, Preschool ; Global Health/statistics & numerical data* ; Infant ; Male ; Prevalence ; Limb Deformities, Congenital/mortality* ; Musculoskeletal Abnormalities/mortality* ; Female ; Disability-Adjusted Life Years ; Incidence ; Infant, Newborn ; Cost of Illness ; Socioeconomic Factors

We report 13 children fulfilling criteria of Alagille syndrome. All had chronic cholestasis secondary to paucity of intrahepatic bile ducts and triangular facies. Eight children had associated congenital heart disease (six pulmonic stenosis, one each tetralogy of Fallot and patent ductus arteriosus), seven with butterfly vertebrae and one with posterior embryotoxon. Seven of the 13 children are alive and jaundice-free but three with concomitant hypercholesterolemia; the six other children died of liver-related complications.
Butterflies ; Bile Ducts, Intrahepatic ; Jaundice ; Musculoskeletal Abnormalities ; Spine

PURPOSE: To report a case of congenital glaucoma associated with nail-patella syndrome. CASE SUMMARY: A 20-day-old female was referred to our clinic for bilateral intraocular pressure (IOP) elevation and treatment of corneal opacities. Her IOP was 25 mmHg and 30 mmHg in the right and left eyes, respectively. After a diagnosis of congenital glaucoma, bilateral trabeculotomy was performed under general anesthesia. On the first postoperative day, the IOP was 12 mmHg in the right eye and 10 mmHg in the left eye, and remained stable thereafter. The infant was the second of fraternal twins (birth weight of 2.42 kg) and had no family history of any particular disease. During the regular checkup, she was referred to an orthopedic clinic for disorders of the elbow and knee. She presented with a dystrophic thumbnail, patella hypoplasia, elbow hypoplasia, and bilateral triangular protrusions of the lateral iliac crest (iliac horn). Based on the above findings, typical nail-patella syndrome was diagnosed and a mutation in the LMX1B gene was detected. CONCLUSIONS: If glaucoma patients have nail deformities or musculoskeletal abnormalities, nail-patella syndrome should be suspected and a multidisciplinary approach should be conducted.
Anesthesia, General ; Congenital Abnormalities ; Corneal Opacity ; Diagnosis ; Elbow ; Female ; Glaucoma ; Humans ; Infant ; Intraocular Pressure ; Knee ; Musculoskeletal Abnormalities ; Nail-Patella Syndrome ; Orthopedics ; Patella ; Trabeculectomy ; Twins, Dizygotic

Correction of the overall coronal and/or sagittal plane deformities is one of the main predictors of successful spinal surgery. In routine clinical practice, spinal alignment is assessed using several spinal and pelvic parameters, such as pelvic incidence and tilt, sacral slope, lumbar lordosis, thoracic kyphosis, and sagittal vertical axis. Standard values have been defined for all these parameters, and the formulas of correction have been set for determining the surgical strategy. However, several factors can potentially bias these formulas. First, all standard values are measured using conventional plain radiographs and are, therefore, prone to bias. The radiologist, measuring surgeon, and patient are possible confounding influencing factors. Second, spino-pelvic compensatory effects and biomechanically relevant structures for the patient’s posture, including ligaments, tendons, and muscles, have received minimal consideration in the literature. Therefore, even in cases of appropriately planned deformity correction surgeries, complications, revision rates, and surgical outcomes significantly vary. This study aimed to illustrate the current clinical weaknesses of the assessment of spinal alignment and the importance of holistically approaching the musculoskeletal system for any spinal deformity surgery. We believe that our detailed insights regarding spinal, sagittal, and coronal alignments as well as the considerations of an individual's spinal balance will contribute toward improvement in routine patient care.
Animals ; Bias (Epidemiology) ; Congenital Abnormalities ; Humans ; Incidence ; Kyphosis ; Ligaments ; Lordosis ; Muscles ; Musculoskeletal System ; Patient Care ; Posture ; Tendons

PURPOSE: The aim of the study was to investigate and analyze bilateral incidence and morphology of complete discoid lateral meniscus (DLM) with possible relation to tears and symptoms in knee joints. MATERIALS AND METHODS: Thirty-eight consecutive patients with symptomatic or already-torn complete DLM on magnetic resonance imaging in a unilateral knee underwent diagnostic arthroscopy on both knee joints upon agreement. The presence and shape of complete DLM as well as presence and pattern of tear were recorded accordingly. RESULTS: In total, 89.5% (34 of 38 patients) showed bilateral complete DLM, and 84.2% yielded bilateralism with identical shape. Cape-slab was the most frequent shape, comprising 68.8% of patients with identically-shaped bilateral DLM overall. Tear patterns were more frequent, in the order of longitudinal, simple horizontal, radial, and degenerative; however, the morphological shape of complete DLM was not significantly related to tear incidence or pattern. Meniscus tears and knee symptoms occurred in the contralateral knee with incidences of 32.4% and 26.5% in patients with bilateral complete DLM, respectively. CONCLUSION: Based on these findings, more aggressive warning on the presence of discoid pathology and the need for evaluation on the contralateral knee should be considered during consultation with patients with symptomatic complete DLM in a unilateral knee in the outpatient clinic.
Adolescent ; Adult ; Arthroscopy/*methods ; Female ; Humans ; Incidence ; Knee Joint/*pathology ; Magnetic Resonance Imaging/methods ; Male ; Menisci, Tibial/*injuries/surgery ; Middle Aged ; Musculoskeletal Abnormalities/complications/diagnosis/epidemiology/*surgery ; Retrospective Studies ; Young Adult

Adult ; Elbow Joint ; injuries ; Female ; Humans ; Joint Dislocations ; therapy ; Musculoskeletal Manipulations ; Radius ; abnormalities ; Radius Fractures ; therapy ; Synostosis ; therapy ; Ulna ; abnormalities

OBJECTIVE: The aim of this study was to investigate the prevalence of orofacial clefts and identify the characteristics of other birth defects associated with orofacial clefts in Korea. METHODS: This study used data from the Congenital Anomaly Survey conducted by the Korea Institute for Health and Social Affairs. The survey was conducted on birth defects documented during 2005 to 2006 in 2,348 medical institutes in Korea. This study was performed using data from medical insurance claims of the National Health Insurance Corporation. The prevalence of orofacial clefts was defined as the number of cases per 10,000 live births. RESULTS: Among the 883,184 live births, 25,335 infants had birth defects, which included 980 infants with orofacial clefts. The prevalence of total orofacial clefts in the total live births was 11.09 per 10,000, accounting for 3.9% of all birth defects. The most common orofacial cleft was cleft palate only (n=492), followed by cleft lip only (n=245) and cleft lip with cleft palate (n=243), with prevalence rates of 5.57, 2.77, 2.75 per 10,000 live births, respectively. While malformations of the circulatory system; digestive system; eyes, ears, face, and neck; and musculoskeletal system were most frequently encountered among infants with a cleft lip with or without a cleft palate, anomalies of most organ systems were notably observed among infants with cleft palate only. CONCLUSION: The prevalence of orofacial clefts in Korea was similar or slightly lower than that of other countries. This study informs present status of orofacial clefts and gives baseline data to lay the foundation stone for Korea's registry system of orofacial clefts.
Academies and Institutes ; Cleft Lip ; Cleft Palate ; Congenital Abnormalities ; Digestive System ; Ear ; Humans ; Infant ; Insurance ; Korea ; Live Birth* ; Musculoskeletal System ; National Health Programs ; Neck ; Prevalence*

OBJECTIVE: To evaluate the effect of custom molded foot orthoses on children with growing pains of the lower extremities. METHODS: Children with growing pains were recruited during a clinic visit. None had any bony deformities, inflammatory joint disease or depression. Resting calcaneal stance position (RCSP) and calcaneal pitch angle were measured, and individual custom molded rigid foot orthoses were prescribed using the inverted orthotic technique to control for foot overpronation using the RCSP angle. Pain sites, degree and frequency of pain, and balance ability were evaluated using Balance Master computerized posturography prior to foot orthosis fitting, and 1 and 3 months later. RESULTS: Twenty children completed the study. Seventeen (75%) had overpronated feet. Significant improvements were noted after 1 and 3 months in pain degree and frequency, and after 3 months in balancing ability. CONCLUSION: The use of custom molded foot orthoses is a good method for treating children with multiple musculoskeletal pains in the leg.
Ambulatory Care ; Child* ; Congenital Abnormalities ; Depression ; Foot ; Foot Orthoses* ; Fungi ; Humans ; Joint Diseases ; Leg ; Lower Extremity* ; Musculoskeletal Pain ; Orthotic Devices ; Pediatrics ; Postural Balance

Sternal malformation/vascular dysplasia association is a rare congenital dysmorphology, which has not yet been reported in Korea. Its typical clinical features include a sternal cleft covered with atrophic skin, a median abdominal raphe extending from the sternal defect to the umbilicus, and cutaneous craniofacial hemangiomata. We report a case of a full-term newborn who presented with no anomalies at birth, except for a skin defect over the sternum and a supraumbilical raphe. Multiple hemangiomas appeared subsequently on her chin and upper chest wall, and respiratory distress due to subglottic hemangioma developed during the first 2 months of life. Her symptoms were controlled with oral prednisolone administration. No respiratory distress have recurred during the 3-year follow-up period.
Chin ; Follow-Up Studies ; Hemangioma ; Humans ; Infant, Newborn ; Korea ; Musculoskeletal Abnormalities ; Parturition ; Prednisolone ; Skin ; Sternum ; Thoracic Wall ; Umbilicus

OBJECTIVE: To know the effectiveness of a custom molded fitting chair between pre- and post-chair status through comparison of musculoskeletal indices in severely disabled children. METHODS: We researched 34 severely disabled patients who had used a custom molded fitting chair continuously for more than a year. There were 27 cerebral palsy patients and 7 patients with other kinds of diseases that affect the brain such as chromosomal disease or metabolic disease. By radiographic studies, Cobb's angle, the femoral neck-shaft angle of the femur, and Reimers migration percentage were measured. The indices are analyzed before and after application. RESULTS: The average period of application was 24 months. There was a significant reduction in the angles of femur neck-shaft, 163.4 degree before and 158.2 degree after the use of the chair (p<0.05), and 23 of 34 had demonstrated a reduced angle. Cobb's angle and Reimers migration percentage increased but the difference of pre- and post-chair status was not statistically significant. Seventeen of 33 children showed reduced Cobb's angle. Also, 19 of 37 showed a reduced degree of dislocation of the hip joints. CONCLUSION: In spite of the use of a custom molded fitting chair, a significant improvement did not emerge for musculoskeletal deformity indices in severely disabled children. However, there was no significant aggravation of Cobb's angle or Reimers migration percentage in developing children. Therefore, it is thought be helpful to prevent rapid aggravation of musculoskeletal deformities.
Brain ; Cerebral Palsy ; Child ; Congenital Abnormalities ; Disabled Children ; Dislocations ; Femur ; Fungi ; Hip ; Humans ; Metabolic Diseases ; Musculoskeletal System ; Orthotic Devices