No abstract available.
Mandibulofacial Dysostosis*

No abstract available.
Mandibulofacial Dysostosis*

No abstract available.
Airway Management* ; Humans ; Mandibulofacial Dysostosis*

Humans ; Infant ; Male ; Mandibulofacial Dysostosis

Bilateral mandibular hypoplasia is found in Treacher Collins syndrome, Pierre Robin sequence, and bilateral craniofacial microsomia. It causes many aesthetic and functional problems such as facial deformities with malocclusion and airway problems. We have corrected bilateral hypoplastic mandible with distraction osteogenesis, which is a highlighted method in mandibular lengthening. For last 3 years 8 months, We applied this method to four bilateral cases, where were Treacher Collins syndrome patients and bilateral craniofacial microsomia patient in rapid multidirectional fashion. A complete ostectomy was made at angle of the mandible and the mandible was fixed 5 days after lengthening was started serially 1mm every 12 hours. After consolidation period for one to three month, the device was removed. We have distracted the mandibles in vertical plane, left.18.8mm, right. 13.4mm, in horizontal plane, left 13.9mm, right 13.7mm on the average. We could achieve good aesthetic results, and their airway problems were improved without any complications.
Congenital Abnormalities ; Goldenhar Syndrome ; Humans ; Malocclusion ; Mandible* ; Mandibulofacial Dysostosis ; Osteogenesis, Distraction ; Pierre Robin Syndrome

Female ; Humans ; Infant, Newborn ; Mandibulofacial Dysostosis

Congenital absence of the major salivary glands, especially of the parotid gland, is a rare disorder whose etiopathogenesis is poorly understood. Aplasia of the parotid glands may be unilateral or bilateral and may occur alone or in association with the absence of other salivary glands or with other developmental anomalies of the first branchial arch, such as hypoplasia or aplasia of the lacrimal glands, hemifacial microsomia, mandibulofacial dysostoses, and multiple congenital anomalies. Various degree of xerostomia and dental caries with early loss of teeth may occur due to decreased salivary production. The authors experienced a case of unilateral parotid aplasia in a 22-year old female who had painless swelling in the right parotid region. We present this case with review of literature.
Branchial Region ; Dental Caries ; Female ; Goldenhar Syndrome ; Humans ; Lacrimal Apparatus ; Mandibulofacial Dysostosis ; Parotid Gland ; Parotid Region ; Salivary Glands ; Tooth ; Xerostomia ; Young Adult

Female ; Humans ; Male ; Mandibulofacial Dysostosis ; genetics ; Pedigree ; Young Adult

Treacher Collins syndrome is a congenital craniofacial malformation with autosomal dominant inheritance as the main genetic pattern. In this condition, the biosynthesis of ribosomes in neural crest cells and neuroepithelial cells is blocked and the number of neural crest cells that migrate to the craniofacial region decreases, causing first and second branchial arch dysplasia. Definite causative genes include treacle ribosome biogenesis factor 1 (tcof1), RNA polymerase Ⅰ and Ⅲ subunit C (polr1c), and RNA polymerase Ⅰ and Ⅲ subunit D (polr1d). This paper provides a review of research of three major patho-genic genes, pathogenesis, phenotypic research, prevention, and treatment of the syndrome.
DNA-Directed RNA Polymerases ; genetics ; Humans ; Mandibulofacial Dysostosis ; genetics ; Neural Crest ; Nuclear Proteins ; Phosphoproteins

Objective:By analyzing the clinical phenotypic characteristics and gene sequences of two patients with Treacher Collins syndrome（TCS）, the biological causes of the disease were determined. Then discuss the therapeutic effect of hearing intervention after bone bridge implantation. Methods:All clinical data of the two family members were collected, and the patients signed the informed consent. The peripheral blood of the proband and family members was extracted, DNA was extracted for whole exome sequencing, and Sanger sequencing was performed on the family members for the mutation site.TCOF1genetic mutations analysis was performed on the paitents. Then, the hearing threshold and speech recognition rate of family 2 proband were evaluated and compared under the sound field between bare ear and wearing bone bridge. Results:In the two pedigrees, the probands of both families presented with auricle deformity, zygomatic and mandibular hypoplasia, micrognathia, hypotropia of the eye fissure, and hypoplasia of the medial eyelashes. The proband of Family 1 also presents with specific features including right-sided narrow anterior nasal aperture and dental hypoplasia, which were consistent with the clinical diagnosis of Treacher Collins syndrome. Genetic testing was conducted on both families, and two heterozygous mutations were identified in the TCOF1 gene: c. 1350_1351dupGG（p. A451Gfs*43） and c. 4362_4366del（p. K1457Efs*12）, resulting in frameshift mutations in the amino acid sequence. Sanger sequencing validation of the TCOF1 gene in the parents of the proband in Family 1 did not detect any mutations. Proband 1 TCOF1 c. 1350_1351dupGG heterozygous variants have not been reported previously. The postoperative monosyllabic speech recognition rate of family 2 proband was 76%, the Categories of Auditory Performance（CAP） score was 6, and the Speech Intelligibility Rating（SIR） score was 4. Assessment using the Meaningful Auditory Integration Scale（MAIS） showed notable improvement in the patient's auditory perception, comprehension, and usage of hearing aids. Evaluation using the Glasgow Children's Benefit Inventory and quality of life assessment revealed significant improvements in the child's self care abilities, daily living and learning, social interactions, and psychological well being, as perceived by the parents. Conclusion:This study has elucidated the biological cause of Treacher Collins syndrome, enriched the spectrum of TCOF1 gene mutations in the Chinese population, and demonstrated that bone bridge implantation can improve the auditory and speech recognition rates in TCS patients.
Child ; Humans ; Mandibulofacial Dysostosis/genetics* ; Quality of Life ; Speech ; Parents ; Mutation ; Nuclear Proteins/genetics* ; Phosphoproteins/genetics*