Objective To report use of the Vibrant Soundbridge (VSB) in patients with congenital deformation of the middle and outer ears and investigate its utility in this patient population.Method Four patients with congenital...Objective To report use of the Vibrant Soundbridge (VSB) in patients with congenital deformation of the middle and outer ears and investigate its utility in this patient population.Method Four patients with congenital deformation of middle and outer ears underwent VSB implantation. All were male (aged 3-18 years,average 13.5 years) and operated on the left side.Malformation was bilateral in 3 patients and unilateral in 1 patient. Surgical techniques were modified to accommodate each patient’s unique conditions and needs.The implant site was approached via the facial recess in 3 patients and through a retro-facial nerve route in 1 patient. The VSB implant was connected to either the stapes (2 cases) or the round window (2 cases).Pure tone and speech audiometry results and daily communication capabilities before and after VSB activation were compared.Results The operations were successful in all patients, with no complications. The patient communication level improved significantly after VSB activation. Average air conduction pure tone threshold or conditioned reflex audiometry threshold improved by 35 dB in the 0.25-4 kHz range,from 69 dB HL before VSB activation to 34 dB HL after.The sentence recognition rate in quiet at 65 dB SPL went up to 86% from 0% without VSB for patients with bilateral deformation and remained at 100% for the patient with unilateral deformity. However, for the latter patient, the rate improved to 20% from 0% without VSB in noise (-8 dB SNR).Conclusion VSB is an excellent solution for improving hearing in patients with congenital deformation of middle and outer ears.Operation can be completed and good results can be achieved even in patients with unique conditions and needs.展开更多
BACKGROUND Thyroglossal duct cysts(TDC)are common congenital deformities.Most of them are cysts formed by the thyroglossal ducts that do not disappear and degenerate in the early embryonic stage.TDC exists alone and i...BACKGROUND Thyroglossal duct cysts(TDC)are common congenital deformities.Most of them are cysts formed by the thyroglossal ducts that do not disappear and degenerate in the early embryonic stage.TDC exists alone and is rarely complicated by other congenital embryonic malformations.Only a few reports of TDC with branchial cleft cysts,thyroid cancer,thyroid hematoma,and epidermoid cysts have been reported.Therefore,we report a patient with TDC and parathyroid cyst(PC),a rare disease that has never been reported.CASE SUMMARY A 47-year-old woman presented to clinic in April 2021 with a neck tumor which she had noticed 5 d earlier.We perfected the relevant examinations,such as ultrasound and computed tomography,and resected the tumor.After surgical treatment,the pathology revealed a cervical thyroglossal duct cyst and a left lobe parathyroid cyst.The patient was followed up for 1 year without significant recurrence.CONCLUSION We report a patient with a simultaneous TDC and a PC to explore the correlation between the two congenital anomalies.展开更多
BACKGROUND Triphalangeal thumb-polysyndactyly syndrome(TPT-PS)is a rare type of congenital limb deformity,and most studies focus on the genetics.Case reports of the sonographic characteristics of TPT-PS during pregnan...BACKGROUND Triphalangeal thumb-polysyndactyly syndrome(TPT-PS)is a rare type of congenital limb deformity,and most studies focus on the genetics.Case reports of the sonographic characteristics of TPT-PS during pregnancy are rare.CASE SUMMARY A 30-year-old woman(G3P1)who had pregnancies with TPT-PS fetuses is presented.The possibility of TPT-PS was shown by ultrasound performed at the 19th wk of pregnancy,featuring hands with six metacarpals,an extra digit at the 5th finger side,and an abnormally widened thumb.Whole-exome sequencing was subsequently conducted.The results showed that exons 1-17 of the LMBR1 gene had a heterozygous duplication,with a length of approximately 253 kb.CONCLUSION We suggest prenatal ultrasound examination combined with genetic testing to diagnose TPT-PS accurately and to help clinicians and patients make decisions.展开更多
Congenital skeletal deformity of fetus varies and may be attributed to a range of reasons. Congenital skeletal deformity seriously affects body function or even leads to neonatal death directly. The disease brings gre...Congenital skeletal deformity of fetus varies and may be attributed to a range of reasons. Congenital skeletal deformity seriously affects body function or even leads to neonatal death directly. The disease brings great pain to victim and their family. We reviewed the fetal prenatal ultrasonic data conducted during period from Jan. 2013 to June 2016, and there were 84 fetuses with skeletal abnormalities among 12 000 cases, and 3 fetuses with thanatophoric dysplasia. Our report described and reviewed three common types of thanatophoric dysplasia, aiming to explore the value of standardized prenatal ultrasonic diagnosis of fetal abnormalities in the skeletal system.展开更多
Congenital absence of the cruciate ligaments is an extremely rare condition with a prevalence of 0.017 per 1000 live births. Niebauer and King first reported this disease in 1960, and after that, similar cases have be...Congenital absence of the cruciate ligaments is an extremely rare condition with a prevalence of 0.017 per 1000 live births. Niebauer and King first reported this disease in 1960, and after that, similar cases have been reported. These cases are usually associated with other deformities of the knee joint, such as the joint dislocation, absence of the tibial intercondylar eminence, deformity of the meniscus, dysplasia of the distal femur, etc.3 However, its association with multiple congenital abnormalities in other areas of the body has been rarely reported. Here, we report a patient with congenital deficiency of bilateral anterior cruciate ligaments associated with scoliosis and hip dysplasia, together with the result of four years follow-up along with a literature review.展开更多
文摘Objective To report use of the Vibrant Soundbridge (VSB) in patients with congenital deformation of the middle and outer ears and investigate its utility in this patient population.Method Four patients with congenital deformation of middle and outer ears underwent VSB implantation. All were male (aged 3-18 years,average 13.5 years) and operated on the left side.Malformation was bilateral in 3 patients and unilateral in 1 patient. Surgical techniques were modified to accommodate each patient’s unique conditions and needs.The implant site was approached via the facial recess in 3 patients and through a retro-facial nerve route in 1 patient. The VSB implant was connected to either the stapes (2 cases) or the round window (2 cases).Pure tone and speech audiometry results and daily communication capabilities before and after VSB activation were compared.Results The operations were successful in all patients, with no complications. The patient communication level improved significantly after VSB activation. Average air conduction pure tone threshold or conditioned reflex audiometry threshold improved by 35 dB in the 0.25-4 kHz range,from 69 dB HL before VSB activation to 34 dB HL after.The sentence recognition rate in quiet at 65 dB SPL went up to 86% from 0% without VSB for patients with bilateral deformation and remained at 100% for the patient with unilateral deformity. However, for the latter patient, the rate improved to 20% from 0% without VSB in noise (-8 dB SNR).Conclusion VSB is an excellent solution for improving hearing in patients with congenital deformation of middle and outer ears.Operation can be completed and good results can be achieved even in patients with unique conditions and needs.
文摘BACKGROUND Thyroglossal duct cysts(TDC)are common congenital deformities.Most of them are cysts formed by the thyroglossal ducts that do not disappear and degenerate in the early embryonic stage.TDC exists alone and is rarely complicated by other congenital embryonic malformations.Only a few reports of TDC with branchial cleft cysts,thyroid cancer,thyroid hematoma,and epidermoid cysts have been reported.Therefore,we report a patient with TDC and parathyroid cyst(PC),a rare disease that has never been reported.CASE SUMMARY A 47-year-old woman presented to clinic in April 2021 with a neck tumor which she had noticed 5 d earlier.We perfected the relevant examinations,such as ultrasound and computed tomography,and resected the tumor.After surgical treatment,the pathology revealed a cervical thyroglossal duct cyst and a left lobe parathyroid cyst.The patient was followed up for 1 year without significant recurrence.CONCLUSION We report a patient with a simultaneous TDC and a PC to explore the correlation between the two congenital anomalies.
基金Supported by Fund of the Research Project of Collaborative Innovation Center for Maternal and Infant Health Service Application Technology,No.XJM1802.
文摘BACKGROUND Triphalangeal thumb-polysyndactyly syndrome(TPT-PS)is a rare type of congenital limb deformity,and most studies focus on the genetics.Case reports of the sonographic characteristics of TPT-PS during pregnancy are rare.CASE SUMMARY A 30-year-old woman(G3P1)who had pregnancies with TPT-PS fetuses is presented.The possibility of TPT-PS was shown by ultrasound performed at the 19th wk of pregnancy,featuring hands with six metacarpals,an extra digit at the 5th finger side,and an abnormally widened thumb.Whole-exome sequencing was subsequently conducted.The results showed that exons 1-17 of the LMBR1 gene had a heterozygous duplication,with a length of approximately 253 kb.CONCLUSION We suggest prenatal ultrasound examination combined with genetic testing to diagnose TPT-PS accurately and to help clinicians and patients make decisions.
文摘Congenital skeletal deformity of fetus varies and may be attributed to a range of reasons. Congenital skeletal deformity seriously affects body function or even leads to neonatal death directly. The disease brings great pain to victim and their family. We reviewed the fetal prenatal ultrasonic data conducted during period from Jan. 2013 to June 2016, and there were 84 fetuses with skeletal abnormalities among 12 000 cases, and 3 fetuses with thanatophoric dysplasia. Our report described and reviewed three common types of thanatophoric dysplasia, aiming to explore the value of standardized prenatal ultrasonic diagnosis of fetal abnormalities in the skeletal system.
文摘Congenital absence of the cruciate ligaments is an extremely rare condition with a prevalence of 0.017 per 1000 live births. Niebauer and King first reported this disease in 1960, and after that, similar cases have been reported. These cases are usually associated with other deformities of the knee joint, such as the joint dislocation, absence of the tibial intercondylar eminence, deformity of the meniscus, dysplasia of the distal femur, etc.3 However, its association with multiple congenital abnormalities in other areas of the body has been rarely reported. Here, we report a patient with congenital deficiency of bilateral anterior cruciate ligaments associated with scoliosis and hip dysplasia, together with the result of four years follow-up along with a literature review.