OBJECTIVES: This study aimed to investigate the clinical characteristics of congenital deciduous teeth absence and its permanent teeth performance type by using panoramic radiographs. METHODS: A total of 15 749 panora-mic radiographs of 3-6-year-old children with deciduous dentition were collected from January 2020 to December 2021. The incidence of congenital deciduous teeth absence was observed, and the abnormality of permanent teeth was recor-ded. SPSS 24.0 software was used for statistical analysis. RESULTS: The incidence of congenital deciduous teeth absence was 2.54% (400/15 749), which was found in 217 girls and 183 boys, and the difference between the genders was statistically significant (P=0.003). The absence of one and two deciduous teeth accounted for 99.75% (399/400) of the subjects. In addition, 92.63% (490/529) of mandibular deciduous lateral incisor was congenitally absent, 44.80% (237/529) of deciduous teeth was absent in the left jaw, and less than 55.20% (292/529) was absent in the right; the difference between them was statistically significant (P=0.017). The absence of 96.41% (510/529) deciduous teeth in the mandibular was significantly more than that of 3.59% (19/529) in the maxillary, and the difference between was statistically significant (P=0.000). Furthermore, 68.00% (272/400) and 32.00% (128/400) of deciduous teeth were absent in unilateral and bilateral, respectively, and the difference was statistically significant (P=0.000). Four types of congenital deciduous teeth absence with permanent teeth were observed as follows: 1) 73.91% (391/529) of permanent teeth was absent; 2) 20.60% (109/529) of permanent teeth was not absent; 3) the number of fused permanent teeth accounted for 4.91% (26/529); 4) the number of supernumerary teeth was 0.57% (3/529). CONCLUSIONS Although the absence of congenital deciduous teeth is less common than that of permanent teeth, it affects deciduous and permanent teeth to some extent. Dentists should pay attention to trace and observe whether abnormalities are present in the permanent teeth and take timely measures to maintain children's oral health.
Male ; Female ; Humans ; Tooth, Deciduous ; Dentition, Permanent ; Tooth, Supernumerary/epidemiology* ; Anodontia/etiology* ; Tooth Abnormalities/complications* ; Fused Teeth/epidemiology*

OBJECTIVES: Congenital birth defects are the main source of disease burden among children under 5 years old in China. This study aims to compare the trends in disease burden of different congenital birth defects among Chinese children under 5 years old from 1990 to 2019, and to provide a scientific basis for strengthening the comprehensive prevention and control of birth defects. METHODS: Based on data from the Global Burden Disease (GBD) in 2019, the incidence mortality rate, and disability-adjusted life years (DALYs) rate of congenital birth defects among Chinese children under 5 years old from 1990 to 2019 were selected as evaluation indicators. The Joinpoint regression model was used to analyze the trends in disease burden of different types with congenital birth defects over three decades. The study also compared the differences in disease burden of congenital birth defects among children under 5 years old by gender. RESULTS: Compared to 1990, the DALYs rates of congenital heart anomalies (1 931.91/100 000), digestive congenital anomalies (364.63/100 000), neural tube defects (277.20/100 000), congenital musculoskeletal and limb anomalies (133.33/100 000), and Down syndrome (128.22/100 000) in children under 5 years old in China in 2019 were decreased 70.78%, 71.61%, 86.21%, 36.84% and 73.65%, respectively. From 1990 to 2019, the mortality rates and DALYs rates of different congenital birth defects showed an overall downward trend, but the incidence of digestive congenital anomalies and Down syndrome showed an upward trend after 2005 and 2001, respectively. Except for congenital musculoskeletal and limb anomalies, incidence of the remaining categories of birth defects were higher in boys than that in girls. CONCLUSIONS The disease burden of congenital birth defects in children under 5 years old in China is decreased substantially from 1990 to 2019, but the burden of congenital heart anomalies is still serious and the incidence of some birth defect diseases is on the rise, and it is still crucial to strengthen the prevention and treatment for birth defects in children and propose targeted measures according to their gender characteristics.
Child, Preschool ; Female ; Humans ; Male ; China/epidemiology* ; Cost of Illness ; Down Syndrome/epidemiology* ; East Asian People ; Congenital Abnormalities/epidemiology*

Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics* ; Child ; China/epidemiology* ; Cryptorchidism/genetics* ; Disorders of Sex Development/genetics* ; Female ; Genital Diseases, Male ; Genotype ; Humans ; Hypospadias/genetics* ; Male ; Membrane Proteins/genetics* ; Penis/abnormalities* ; Phenotype ; Retrospective Studies ; Steroid 21-Hydroxylase/genetics*

BACKGROUND: Systemic and local factors may lead to disruption of craniofacial growth and development, causing an imbalance between the orofacial skeleton, muscle and soft tissue, dental occlusion, and the dental arch during growth periods. We aimed to reveal whether the prevalence of incompetent lip seal (ILS) varies with age and region, as well as to clarify the factors related to an ILS, in a national, large-scale epidemiological study. METHODS: We surveyed 3399 children, from 3 to 12 years of age, visiting 66 pediatric dental clinics throughout Japan. For this survey, we employed a questionnaire consisting of 44 questions regarding daily health conditions and lifestyle habits. We evaluated the differences in ILS prevalence by age and region (using a Cochran-Armitage test for trend and a Kruskal-Wallis test), and the relationship between ILS and factors investigated in the questionnaire (using Spearman's rank correlation coefficient). RESULTS: We observed that 30.7% of Japanese children exhibited an ILS and that the ILS rate increased with age (p < 0.001). There were no regional differences in the rate of ILS in Japanese children (p = 0.506). We revealed that 12 of 44 survey items exhibited a statistically significant correlation with ILS (p < 0.001), using Spearman's rank correlation coefficient. These items involved orofacial morphology, mouth breathing, and possibly, allergic rhinitis. CONCLUSION The rate of ILS seems to increase with age in children, throughout Japan. Therefore, this disorder may not self-correct during the growth periods in these children. Guidelines are required for pediatric dentists to recognize ILS among children aged 3-12 years.
Child ; Child, Preschool ; Cross-Sectional Studies ; Female ; Humans ; Japan/epidemiology* ; Lip/abnormalities* ; Male ; Prevalence

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

Objective: The number of children with polydactyly is increasing. In addition to genetic factors, an influence of maternal behavior or environmental effects during pregnancy is becoming increasingly apparent. However, epidemiological data on these effects are lacking. Methods: This hospital-based, case-control study enrolled 143 infants with polydactyly and 286 controls without genetic diseases to evaluate the association between active and passive maternal smoking during pregnancy and the likelihood of giving birth to a child with polydactyly. Results: Active and passive maternal smoking during pregnancy was associated with an increased risk of giving birth to a child with polydactyly (active smoking: OR=4.74, 95%CI: 1.43-15.65, P=0.011; passive smoking: OR=2.42, 95%CI: 1.32-4.44, P=0.004). After adjusting for confounders, smoking during pregnancy remained significant influence on polydactyly (active smoking: aOR=7.27, 95%CI: 1.72-30.72, P=0.007; passive smoking: aOR=2.41, 95%CI: 1.11-5.23, P=0.026). Conclusion: Active and passive maternal smoking during pregnancy appears to be a risk factor for polydactyly in newborns.
Case-Control Studies ; Child ; Female ; Fingers/abnormalities* ; Humans ; Infant ; Infant, Newborn ; Inhalation Exposure/statistics & numerical data* ; Maternal Exposure/statistics & numerical data* ; Polydactyly/epidemiology* ; Pregnancy ; Pregnancy Complications/etiology* ; Risk Factors ; Smoking/adverse effects* ; Tobacco Smoke Pollution/statistics & numerical data*

Communicable Disease Control ; Congenital Abnormalities ; virology ; Disease Outbreaks ; Ecology ; Humans ; Risk ; Singapore ; Social Medicine ; Zika Virus ; Zika Virus Infection ; epidemiology ; therapy ; transmission

ObjectiveTo investigate the pregnancy outcomes of assisted reproductive technology (ART) with cryopreserved donor sperm and the safety of the offspring thus conceived.

METHODSThe Human Sperm Bank of CITIC Xiangya Hospital provided cryopreserved donor semen to 31 reproductive centers in China between January 2006 and December 2012, with which 50247 ART cycles were accomplished. We compared the rates of birth defects and spontaneous abortion of intracervical insemination (ICI), intrauterine insemination (IUI), in vitro fertilization (IVF), and intracytoplasmic sperm injection (ICSI).

RESULTSA total of 39 047 ART cycles were performed by artificial insemination with cryopreserved donor sperm, including 36 674 cycles of ICI and 2 372 cycles of IUI. Among the 8 612 clinical pregnancies achieved by ICI, there were 917 cases of spontaneous abortion (at <28 gestational wk) (10.6%) and 6133 live births, with 43 cases of birth defect (0.70%). Of the 547 clinical pregnancies achieved by IUI, there were 41 cases of spontaneous abortion (7.5%) and 426 live births, with 2 cases of birth defect (0.47%). Totally, 11 200 cycles of IVF and ICSI were accomplished with cryopreserved donor sperm. Of the 5 860 clinical pregnancies achieved by IVF, there were 456 cases of spontaneous abortion (7.8%) and 5089 live births, with 55 cases of birth defect (1.08%). Among the 350 clinical pregnancies achieved by ICSI, there were 30 cases of spontaneous abortion (8.6%) and 229 live births, with 3 cases of birth defect (1.31%). The birth defect rate of ART with cryopreserved donor sperm was significantly lower than that published by the Chinese Ministry of Health (0.86% vs 1.53%,P<0.01).

CONCLUSIONSThe safety of the offspring conceived by ART with cryopreserved donor sperm is controllable.

Abortion, Spontaneous ; epidemiology ; China ; Congenital Abnormalities ; epidemiology ; Cryopreservation ; Female ; Fertilization in Vitro ; Humans ; Insemination, Artificial ; Male ; Pregnancy ; Pregnancy Outcome ; Reproductive Techniques, Assisted ; adverse effects ; Sperm Injections, Intracytoplasmic ; Spermatozoa ; cytology ; Tissue Donors

INTRODUCTIONBicuspid aortic valve (BAV) is the most common form of adult congenital heart disease. When compared to patients with a normal trileaflet aortic valve, dilatation of the aortic root and the ascending aorta (Asc Ao) are the common findings in patients with BAV, with consequent higher risk of developing aortic aneurysm, aortic dissection and rupture. We aim to determine the site of the Asc Ao where maximum dilatation occurs in Asian adult patients with BAV.

MATERIALS AND METHODSAll subjects underwent full echocardiography examination. The diameter of the Asc Ao was measured at 3 cm, 4 cm, 5 cm, 6 cm and 7 cm from the level of aortic annulus to the Asc Ao in 2D from the parasternal long-axis view.

RESULTSA total of 80 patients (male/female: 45/35; mean age: 45.3 ± 16.2 years) with congenital BAV and 30 normal control group (male/female: 16/14; mean age: 45.9 ± 15.1 years) were enrolled. The indexed diameters of the Asc Ao were significantly larger than the control group. In patients with BAV, maximum dilatation of Asc Ao occurred around 6 cm distal to the aortic annulus.

CONCLUSIONIn patients with BAV, dilatation of Asc Ao is maximal at the mid Asc Ao region around 6 cm distal to the aorta annulus.

Adult ; Aneurysm, Dissecting ; epidemiology ; Aorta ; diagnostic imaging ; Aortic Aneurysm ; epidemiology ; Aortic Diseases ; diagnostic imaging ; epidemiology ; Aortic Rupture ; epidemiology ; Aortic Valve ; abnormalities ; diagnostic imaging ; Case-Control Studies ; Comorbidity ; Dilatation, Pathologic ; diagnostic imaging ; epidemiology ; Echocardiography ; Female ; Heart Valve Diseases ; diagnostic imaging ; epidemiology ; Humans ; Male ; Middle Aged ; Risk Factors ; Singapore ; epidemiology

Bifid mandibular condyle (BMC) is an uncommon morphological variant of the mandibular condyle. Although authors have proposed various etiologies for BMC, no consensus has emerged. In addition, varying findings have been reported regarding the epidemiological parameters of BMC (e.g., prevalence, gender ratio, and age), possibly due to its low incidence. BMC is occasionally associated with symptoms of the temporomandibular joint, such as ankylosis, pain, and trismus; however, it is difficult to detect this condition on conventional radiographs. This study reports a case of BMC with radiographic findings, and reviews the literature on the epidemiology of BMC.
Anatomic Variation ; Ankylosis ; Congenital Abnormalities ; Consensus ; Epidemiology ; Incidence ; Mandibular Condyle* ; Prevalence ; Temporomandibular Joint ; Trismus