Abnormalities, Multiple ; Child ; Femur ; abnormalities ; Hand Deformities, Congenital ; complications ; Humans ; Male ; Tibia ; abnormalities ; Tooth Abnormalities ; complications

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*

Objective: To analyze the clinical and genetic characteristics of pediatric patients with dual genetic diagnoses (DGD). Methods: Clinical and genetic data of pediatric patients with DGD from January 2021 to February 2022 in Peking University First Hospital were collected and analyzed retrospectively. Results: Among the 9 children, 6 were boys and 3 were girls. The age of last visit or follow-up was 5.0 (2.7,6.8) years. The main clinical manifestations included motor retardation, mental retardation, multiple malformations, and skeletal deformity. Cases 1-4 were all all boys, showed myopathic gait, poor running and jumping, and significantly increased level of serum creatine kinase. Disease-causing variations in Duchenne muscular dystrophy (DMD) gene were confirmed by genetic testing. The 4 children were diagnosed with DMD or Becker muscular dystrophy combined with a second genetic disease, including hypertrophic osteoarthropathy, spinal muscular atrophy, fragile X syndrome, and cerebral cavernous malformations type 3, respectively. Cases 5-9 were clinically and genetically diagnosed as COL9A1 gene-related multiple epiphyseal dysplasia type 6 combined with NF1 gene-related neurofibromatosis type 1, COL6A3 gene-related Bethlem myopathy with WNT1 gene-related osteogenesis imperfecta type XV, Turner syndrome (45, X0/46, XX chimera) with TH gene-related Segawa syndrome, Chromosome 22q11.2 microduplication syndrome with DYNC1H1 gene-related autosomal dominant lower extremity-predominant spinal muscular atrophy-1, and ANKRD11 gene-related KBG syndrome combined with IRF2BPL gene-related neurodevelopmental disorder with regression, abnormal movement, language loss and epilepsy. DMD was the most common, and there were 6 autosomal dominant diseases caused by de novo heterozygous pathogenic variations. Conclusions: Pediatric patients with coexistence of double genetic diagnoses show complex phenotypes. When the clinical manifestations and progression are not fully consistent with the diagnosed rare genetic disease, a second rare genetic disease should be considered, and autosomal dominant diseases caused by de novo heterozygous pathogenic variation should be paid attention to. Trio-based whole-exome sequencing combining a variety of molecular genetic tests would be helpful for precise diagnosis.
Humans ; Abnormalities, Multiple ; Retrospective Studies ; Intellectual Disability/genetics* ; Bone Diseases, Developmental/complications* ; Tooth Abnormalities/complications* ; Facies ; Muscular Dystrophy, Duchenne/complications* ; Muscular Atrophy, Spinal/complications* ; Carrier Proteins ; Nuclear Proteins

complications are studied by many clinician. The complications include sensory disturbance, jaw fracture, excessive bleeding, condylar positional changes and loss of pulp vitality. Few surgical procedures are as satisfying for the surgeon and patient as a well-done orthognathic surgery. On the other hand, the patient is more satisfied with the result than who are treated with only orthodontic treatment especially in severe deformity case. There are problems that patient overcome but it is not serious complications. One of these, the problem about loss of pulp vitality can't influence function but give a lot of discomfort to the patient. From September 1997 to January 1998, 7 patients who are treated for dentofacial deformity via Le Fort I osteotomy or anterior segmental osteotomy were examined pulp sensitivity using digital pulp tester. This preliminary study have a focus on the investigation of recovery of pulp vitality. The electric pulpal test were used at preoperative, postoperative, at intervals . And we report some results acquired from this study. Follwing result are obtained: 1. In anterior segmental ostetomy case (1 case), total 12 teeth were examined. Postoperative 8 weeks, 1 tooth are positive reaction. 2. In Le Fort I osteotomy case (6 case), total 71 teeth were examined. Postoperative 8 weeks, 5 teeth are positive reaction.]]>
Congenital Abnormalities ; Dentofacial Deformities ; Hand ; Hemorrhage ; Humans ; Jaw Fractures ; Orthognathic Surgery ; Osteotomy ; Postoperative Complications ; Tooth

Alveolar Process ; pathology ; Anodontia ; diagnostic imaging ; etiology ; pathology ; Anterior Eye Segment ; abnormalities ; Cleidocranial Dysplasia ; complications ; Eye Abnormalities ; complications ; Hallermann's Syndrome ; complications ; Humans ; Malocclusion ; complications ; Prosthodontics ; Radiography ; Tooth Abnormalities ; complications

Axenfeld-Rieger syndrome (ARS) is associated with ocular and systemic anomalies. PITX2 is known to be a major controlling gene in the pathogenesis of ARS and is associated with differentiation in both the neural crest and mesoderm during eye development. A 4-year-old girl with bilateral ARS had 20 prism diopters (PD) of exotropia with 30PD of A- pattern deviation, more than 20PD of dissociated vertical deviation (DVD), and severe superior oblique overaction (SOOA). During surgery we observed that the SO inserted more posteriorly than normal. We believe this finding is one of the abnormal manifestations of the development of the extraocular muscles in ARS.
*Abnormalities, Multiple ; Anterior Eye Segment/*abnormalities ; Child, Preschool ; Eye Abnormalities/*diagnosis/surgery ; Eye Movements ; Female ; Follow-Up Studies ; Humans ; Oculomotor Muscles/*abnormalities/surgery ; Ophthalmologic Surgical Procedures/*adverse effects ; Optic Nerve/abnormalities ; Postoperative Complications ; Sclera/*pathology/surgery ; Syndrome ; Tooth Abnormalities/*genetics

OBJECTIVETo investigate the prevalence of dental anomalies in Chinese children with complete unilateral cleft lip and palate (UCLP).

METHODSDental histories and radiographs of 244 Chinese children with UCLP were collected. The diagnosis of dental anomalies was based on panoramic radiographs before alveolar bone grafting. All patients were over 8 years old.

RESULTSIn the UCLP group, 66.8% of the patients was presented with hypodontia. The maxillary lateral incisors were the most common teeth affected, followed by maxillary second premolars, mandibular incisors and mandibular second premolars. A total of 33.6% the patients was presented with dental malformation, most were microdontic laterel incisors. A total of 4.9% the patients was presented with hyperdontia. The supernumerary teeth were more frequently found in the cleft region. The prevalence of missing maxillary lateral incisor in the noncleft side was statistically different between genders, which was higher in male (P < 0.050). This group of Chinese children with UCLP demonstrated significantly higher prevalence of hypodontia, hyperdontia, and malformation on the cleft side than on the noncleft side (P < 0.01).

CONCLUSIONSHypodontia is the most common type of dental anomalies. The prevalence of dental anomalies is higher in the UCLP patients than in the normal population. Dental anomalies occur more frequently on the cleft side than on the noncleft side.

Anodontia ; etiology ; Asian Continental Ancestry Group ; Bicuspid ; abnormalities ; Child ; Cleft Lip ; complications ; Cleft Palate ; complications ; Female ; Humans ; Incisor ; abnormalities ; Male ; Mandible ; Maxilla ; Odontodysplasia ; etiology ; Sex Factors ; Tooth Abnormalities ; etiology ; Tooth, Supernumerary ; etiology

A Principle of reconstruction is to minimize secondary morbidity using a simple and safe technique, which is to make the best result of shape and fuction after reconstruction using like tissue. Among the many method for oral cavity reconstruction, the palatal island flap is just one of methods which satisfies the principle of reconstruction. We have retrospectively reviewed 7 cases between June 1997 and January 2003 in which palatal island flap were used for the primary reconstruction of postablative intraoral defect. The Incision was made 1cm medial to the teeth and 0.5cm anterior to the junction of the soft and hard palate. The vascular pedicle was carefully identified. We fractured the hamulus of the pterygoid plate and resected the greater palatine foramen as a wedge shape to get an extension of vascular pedicle. The flap to be rotated through 180? into the surgical defect. Postoperative complications containing necrosis, inflammation, wound dehiscence, oronasal fistula did not occur. The palatal donor site was left granulate after applying Terudermis(R) and recovered by secondary intention in 2 weeks with little residual deformity. Palatal island flap offers a reliable method of primary reconstruction for intraoral defect.
Congenital Abnormalities ; Fistula ; Humans ; Inflammation ; Intention ; Mouth ; Necrosis ; Palate, Hard ; Postoperative Complications ; Retrospective Studies ; Tissue Donors ; Tooth ; Wounds and Injuries

Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation disorder. Cardiac defects are observed in about 50% of EvC cases. Surgical data is lacking on the prognosis and life expectancy of EvC patients. Herein, we report the case of a 38-year-old man with EvC syndrome who underwent two surgical corrections for cardiac anomalies. This report supplements the available information on the clinical course of EvC syndrome in older patients.
Adult ; Ellis-Van Creveld Syndrome ; diagnosis ; genetics ; surgery ; Genes, Recessive ; Hand Deformities ; complications ; Humans ; Life Expectancy ; Male ; Mitral Valve Insufficiency ; surgery ; Prognosis ; Quality of Life ; Tooth Abnormalities ; complications

The most important factor in the beauty of the chin is the harmony of the facial skeleton and soft tissue. The surgery of the chin has the special role in plastic surgery of its importance in facial anesthetics in consideration of asymmetry, unbalance and disharmony. The goal of surgical treatment of mandibular prognathism with asymmetry is to achieve maximal aesthetic improvement commensurate with attainment of a stable functional occlusion. Sagittal split ramus osteotomy(SSRO) is one of the surgical techniques used to correct mandibular deformities. In order to prevent many surgical anatomical problems, we must know the anatomical structure related to SSRO. Accurate preoperative evaluation and choice of proper operation method improve the postoperative result. From March 1991 to February 2003, we have performed 71 cases of SSRO successfully. Our operation technique was unique and effective for splitting of mandibular ramus as follows. At first, medial horizontal osteotomy was done just above the mandibular lingula within 4mm by using guarded reciprocating saw. Next, lateral vertical osteotomy at the 1st or 2nd molar teeth was followed by osteotomy using sagittal saw in 5mm depth on the anterior border of the ramus between the previous two osteotomy region. Then sagittal splitting of the ramus was done carefully with curved osteotome. After that, 3-point fixation using passive repositioning screws was done. 2 screws were fixed at superior and inferior area of 5mm posterior to the vertical cut on the lateral cortex, 1 screw was fixed at the more posterosuperior area on the lateral cortex. Anatomic consideration of mandible is very important in this procedure. Then we studied in 71 patients with regarding improvement of facial contour and dental occlusion, cephalometric alteration, change of sensibility, maximal mouth opening, and amount of relapse. We achieved satisfactory results and less complication, our patients were satisfied with good contouring and dental occlusion. Although amelioration of sensory complaint after SSRO needed a longer period than previously expected in general condition of the nerve regeneration, author's modification of SSRO was useful method to reduce the postoperative complication.
Anesthetics ; Beauty ; Chin ; Congenital Abnormalities ; Dental Occlusion ; Humans ; Mandible* ; Molar ; Mouth ; Nerve Regeneration ; Osteotomy* ; Osteotomy, Sagittal Split Ramus ; Postoperative Complications ; Prognathism ; Recurrence ; Skeleton ; Surgery, Plastic ; Tooth