1.The experience of treacher collins syndrome.
Byeong Woog CHOI ; Kyu Nam PARK ; Ji Woon HA
Journal of the Korean Society of Plastic and Reconstructive Surgeons 1993;20(6):1327-1335
No abstract available.
Mandibulofacial Dysostosis*
2.A Case of Treacher Collins Syndrome.
Hee Shang YOUN ; Koo Soo KIM ; Hyung Ro MOON
Journal of the Korean Pediatric Society 1984;27(2):207-212
No abstract available.
Mandibulofacial Dysostosis*
3.Easy airway management using the i-gel(TM) supraglottic airway in a patient with Treacher Collins syndrome.
Jungsub SOH ; Hye Won SHIN ; Sung Uk CHOI ; Choon Hak LIM ; Hye Won LEE
Korean Journal of Anesthesiology 2014;67(Suppl):S17-S18
No abstract available.
Airway Management*
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Humans
;
Mandibulofacial Dysostosis*
4.A case with Treacher-Collins syndrome.
Quan-li LI ; De WU ; Peng-fei DOU
Chinese Journal of Pediatrics 2008;46(12):936-936
7.Bilateral Rapid Distraction of Mandible.
Sukwha KIM ; Joong Hyuk CHOI ; Jae Chan KIM ; Chul Gyoo PARK ; Woo Jung KIM
Journal of the Korean Cleft Palate-Craniofacial Association 2003;4(2):95-99
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
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Goldenhar Syndrome
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Humans
;
Malocclusion
;
Mandible*
;
Mandibulofacial Dysostosis
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Osteogenesis, Distraction
;
Pierre Robin Syndrome
8.Pathogenic genes and clinical therapeutic strategies for Treacher Collins syndrome.
Bin YIN ; Bing SHI ; Zhong-Lin JIA
West China Journal of Stomatology 2019;37(3):330-335
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
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genetics
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Humans
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Mandibulofacial Dysostosis
;
genetics
;
Neural Crest
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Nuclear Proteins
;
Phosphoproteins
9.TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery.
Yonghua LI ; Wenyue CHI ; Ken LIN ; Jinyan ZU ; Hua SHAO ; Zhiyong MAO ; Quandong CHEN ; Jing MA
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2023;37(9):748-754
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
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Humans
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Mandibulofacial Dysostosis/genetics*
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Quality of Life
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Speech
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Parents
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Mutation
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Nuclear Proteins/genetics*
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Phosphoproteins/genetics*
10.Nager Syndrome associated with 45,X Monosomy.
Journal of Genetic Medicine 1997;1(1):1-4
Nager syndrome is a rare malformation complex characterized by facial, limb, and skeletal morphogenesis.The mode of inheritance has not been definitely established. Major karyotypic abnormalities were seldom associated with this syndrome. We report on an infant with Nager acrofacial dysostosis that was associated with 45,X monosomy. This baby was born to a 36-year-old multigravid woman after 37 weeks of gestation and with maternal hydramnios. The baby girl died of airway obstruction due to retruded tongue 3 hours after birth. Phenotypically, this this patient had mandibulofacial dysostosis, radioulnar synostosis, hypoplasia and aplasia of thumbs, peripheral edema and apparently normal genital organs. We confirmed that major chromosomal anomaly including 45,X monosomy could be associated with Nager syndrome, although its pathogenetic significance remains unanswered.
Adult
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Airway Obstruction
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Dysostoses
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Edema
;
Extremities
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Female
;
Genitalia
;
Humans
;
Infant
;
Mandibulofacial Dysostosis
;
Monosomy*
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Parturition
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Polyhydramnios
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Pregnancy
;
Synostosis
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Thumb
;
Tongue
;
Wills