Craniofacial microsomia(CFM)is a congenital malformation with maxillary and/or mandibular hypoplasia,skin tags,and ear malformations(Luo et al.,2023).Microtia,in its mildest form,can occur alone(Quiat et al.,2023).Wit...Craniofacial microsomia(CFM)is a congenital malformation with maxillary and/or mandibular hypoplasia,skin tags,and ear malformations(Luo et al.,2023).Microtia,in its mildest form,can occur alone(Quiat et al.,2023).With a prevalence of 3.8/100,000(Barisic et al.,2014),CFM is the second most common congenital craniofacial abnormality(Li et al.,2022;Luo et al.,2023).Most cases are sporadic,but familial ones suggest autosomal dominant(AD)or autosomal recessive(AR)(Beleza-Meireles et al.,2014).In 2023,Quiat et al.and Mao et al.successively identified FOXI3 variants in 16 pedigrees and 10 sporadic cases,respectively,accounting for 3.1%of CFM cases(Mao et al.,2023;Quiat et al.,2023).FOX/3 has surpassed SF3B2 as the most frequently identified pathogenic gene for CFM to date(Timberlake et al.,2021;Mao et al.,2023;Quiat et al.,2023).In this study,we performed whole-exome sequencing(WES)on 201 CFM pedigrees and detected FOX/3 variants in 8 AD-inherited pedigrees with 24 patients and 28 unaffected individuals(Fig.1A).展开更多
BACKGROUND Hemifacial microsomia(HFM)is the second most common craniofacial congenital anomaly following cleft lip and palate.Because of the various phenotypic spectra and the severity of the deformity,a wide range of...BACKGROUND Hemifacial microsomia(HFM)is the second most common craniofacial congenital anomaly following cleft lip and palate.Because of the various phenotypic spectra and the severity of the deformity,a wide range of treatment approaches have been proposed.Recently,the surgery-first approach(SFA)was introduced to treat mild to moderate HFM,and it yielded a balanced facial appearance.The SFA not only promotes rapid improvement in facial aesthetics but also considerably reduces the overall treatment time.CASE SUMMARY A female patient,aged 25 years old,sought orthodontic treatment with the chief complaint of dental and facial asymmetry.After a comprehensive physical examination and imaging analysis were performed,the patient was diagnosed with mild HFM that was primarily attributed to unilateral abnormal development of the maxilla-mandibular.The SFA was carried out to correct the skeletal deformity.The palatal suture was used as the midline of the maxilla in the surgical plan to center the maxilla,and the chin was also properly positioned to obtain a relatively symmetrical facial appearance.Four weeks after the surgery,the patient was referred for postsurgical orthodontics to decompensate the dentition and stabilize the occlusion.After 20 mo of treatment,all orthodontic appliances were removed.The posttreatment photographs of the patient and her smile confirmed good aesthetic and occlusal results.CONCLUSION Mild HFM can be corrected by SFA,which not only promotes rapid improvement in facial aesthetics but also considerably reduces the overall treatment time.展开更多
BACKGROUND Hemifacial microsomia(HFM)is a rare congenital malformation characterized by a combination of various anomalies,including the face,ears,eyes,and vertebrae.Prenatal diagnosis for HFM is possible,and quite ac...BACKGROUND Hemifacial microsomia(HFM)is a rare congenital malformation characterized by a combination of various anomalies,including the face,ears,eyes,and vertebrae.Prenatal diagnosis for HFM is possible,and quite accurate ultrasound can detect obvious defects.The etiology is still unknown,although some hypotheses have been proposed,including gene mutation,chromosome anomaly,and environmental risk factors.However,there are few reports of pulmonary hypoplasia and dextrocardia in HFM.CASE SUMMARY A 2-year-old boy presented to the ear reconstruction department of our hospital complaining of deviation of the face to the right side and auricular anomaly.Physical examination revealed facial asymmetry,preauricular skin tags,and concha-type microtia with stricture of the external auditory canal on the right side.Head magnetic resonance imaging showed bilateral semicircular canal dysplasia and bilateral internal auditory canals stenosis.Audiometric examination showed bilateral severe sensorineural hearing loss.Chest radiography and computed tomography showed dextrocardia and right pulmonary hypoplasia.CONCLUSION This case presented a rare finding and an unusual association of 3 malformations,ipsilateral HFM,pulmonary agenesis,and dextrocardia.展开更多
Background:Hemifacial microsomia(HFM),which involves multiple sites with different levels of severity,is the second most common congenital craniofacial deformity after cleft lip and palate.However,three-dimensional(3D...Background:Hemifacial microsomia(HFM),which involves multiple sites with different levels of severity,is the second most common congenital craniofacial deformity after cleft lip and palate.However,three-dimensional(3D)measurements of mandibular deformities have not yet been studied in detail.The objective of this study is to investigate the method of 3D measurements of mandibular deformities in HFM patients.Methods:A total of 48 HFM patients were included in this study.All clinical treatment for patients was performed in the Plastic Surgery Hospital of the Chinese Academy of Medical Sciences at Peking Union Medical College from June 2006 to June 2020.The patients’3D computerized tomography scan data were processed using medical imaging software,following four iterative steps:3D reconstruction,mirroring,differential analysis,and partition.Results:The characteristics of the mandibular bone in HFM patients are mainly presented as follows:(1)compared to the normal side,the part of the bone body that extends from the ascending ramus to the pogonion(Po-NB)is analyzed using a dynamic process:less fullness-fullness-more fullness;(2)absences were frequently observed among the angular zones,that is,the height of the ascending ramus is deficient.Conclusions:HFM is a complicated condition with numerous variations in clinical presentation.We employed both 3D image reconstruction and computerization image processing techniques to investigate asymmetrical mandibular deformity in HFM patients in detail and with great accuracy.This will be of great use to clinicians for disease management.展开更多
基金support in this study.This work was supported by the National Natural Science Foundation of China(82271889,82172105)the National Key Research and Development Program of China(2021YFC2701000)Shanghai Natural Science Foundation(23ZR1409400,24ZR1409400).
文摘Craniofacial microsomia(CFM)is a congenital malformation with maxillary and/or mandibular hypoplasia,skin tags,and ear malformations(Luo et al.,2023).Microtia,in its mildest form,can occur alone(Quiat et al.,2023).With a prevalence of 3.8/100,000(Barisic et al.,2014),CFM is the second most common congenital craniofacial abnormality(Li et al.,2022;Luo et al.,2023).Most cases are sporadic,but familial ones suggest autosomal dominant(AD)or autosomal recessive(AR)(Beleza-Meireles et al.,2014).In 2023,Quiat et al.and Mao et al.successively identified FOXI3 variants in 16 pedigrees and 10 sporadic cases,respectively,accounting for 3.1%of CFM cases(Mao et al.,2023;Quiat et al.,2023).FOX/3 has surpassed SF3B2 as the most frequently identified pathogenic gene for CFM to date(Timberlake et al.,2021;Mao et al.,2023;Quiat et al.,2023).In this study,we performed whole-exome sequencing(WES)on 201 CFM pedigrees and detected FOX/3 variants in 8 AD-inherited pedigrees with 24 patients and 28 unaffected individuals(Fig.1A).
基金National Natural Science Foundation of China,No.81801005 and No.81870795and Jilin Provincial Development and Reform Commission,No.2018-33-05.
文摘BACKGROUND Hemifacial microsomia(HFM)is the second most common craniofacial congenital anomaly following cleft lip and palate.Because of the various phenotypic spectra and the severity of the deformity,a wide range of treatment approaches have been proposed.Recently,the surgery-first approach(SFA)was introduced to treat mild to moderate HFM,and it yielded a balanced facial appearance.The SFA not only promotes rapid improvement in facial aesthetics but also considerably reduces the overall treatment time.CASE SUMMARY A female patient,aged 25 years old,sought orthodontic treatment with the chief complaint of dental and facial asymmetry.After a comprehensive physical examination and imaging analysis were performed,the patient was diagnosed with mild HFM that was primarily attributed to unilateral abnormal development of the maxilla-mandibular.The SFA was carried out to correct the skeletal deformity.The palatal suture was used as the midline of the maxilla in the surgical plan to center the maxilla,and the chin was also properly positioned to obtain a relatively symmetrical facial appearance.Four weeks after the surgery,the patient was referred for postsurgical orthodontics to decompensate the dentition and stabilize the occlusion.After 20 mo of treatment,all orthodontic appliances were removed.The posttreatment photographs of the patient and her smile confirmed good aesthetic and occlusal results.CONCLUSION Mild HFM can be corrected by SFA,which not only promotes rapid improvement in facial aesthetics but also considerably reduces the overall treatment time.
基金Supported by the National Natural Science Foundation of China,No. 81701930
文摘BACKGROUND Hemifacial microsomia(HFM)is a rare congenital malformation characterized by a combination of various anomalies,including the face,ears,eyes,and vertebrae.Prenatal diagnosis for HFM is possible,and quite accurate ultrasound can detect obvious defects.The etiology is still unknown,although some hypotheses have been proposed,including gene mutation,chromosome anomaly,and environmental risk factors.However,there are few reports of pulmonary hypoplasia and dextrocardia in HFM.CASE SUMMARY A 2-year-old boy presented to the ear reconstruction department of our hospital complaining of deviation of the face to the right side and auricular anomaly.Physical examination revealed facial asymmetry,preauricular skin tags,and concha-type microtia with stricture of the external auditory canal on the right side.Head magnetic resonance imaging showed bilateral semicircular canal dysplasia and bilateral internal auditory canals stenosis.Audiometric examination showed bilateral severe sensorineural hearing loss.Chest radiography and computed tomography showed dextrocardia and right pulmonary hypoplasia.CONCLUSION This case presented a rare finding and an unusual association of 3 malformations,ipsilateral HFM,pulmonary agenesis,and dextrocardia.
基金Key Clinical Program of the Ministry of Health(No.2010-132)。
文摘Background:Hemifacial microsomia(HFM),which involves multiple sites with different levels of severity,is the second most common congenital craniofacial deformity after cleft lip and palate.However,three-dimensional(3D)measurements of mandibular deformities have not yet been studied in detail.The objective of this study is to investigate the method of 3D measurements of mandibular deformities in HFM patients.Methods:A total of 48 HFM patients were included in this study.All clinical treatment for patients was performed in the Plastic Surgery Hospital of the Chinese Academy of Medical Sciences at Peking Union Medical College from June 2006 to June 2020.The patients’3D computerized tomography scan data were processed using medical imaging software,following four iterative steps:3D reconstruction,mirroring,differential analysis,and partition.Results:The characteristics of the mandibular bone in HFM patients are mainly presented as follows:(1)compared to the normal side,the part of the bone body that extends from the ascending ramus to the pogonion(Po-NB)is analyzed using a dynamic process:less fullness-fullness-more fullness;(2)absences were frequently observed among the angular zones,that is,the height of the ascending ramus is deficient.Conclusions:HFM is a complicated condition with numerous variations in clinical presentation.We employed both 3D image reconstruction and computerization image processing techniques to investigate asymmetrical mandibular deformity in HFM patients in detail and with great accuracy.This will be of great use to clinicians for disease management.
