Apart from listening to the cry of a healthy newborn,it is the declaration by the attending paediatrician in the labour room that the child is normal which brings utmost joy to parents.The global incidence of children...Apart from listening to the cry of a healthy newborn,it is the declaration by the attending paediatrician in the labour room that the child is normal which brings utmost joy to parents.The global incidence of children born with congenital anomalies has been reported to be 3%-6%with more than 90%of these occurring in low-and middle-income group countries.The exact percentages/total numbers of children requiring surgical treatment cannot be estimated for several reasons.These children are operated under several surgical disciplines,viz,paediatric-,plastic reconstructive,neuro-,cardiothoracic-,orthopaedic surgery etc.These conditions may be life-threatening,e.g.,trachea-oesophageal fistula,critical pulmonary stenosis,etc.and require immediate surgical intervention.Some,e.g.,hydrocephalus,may need intervention as soon as the patient is fit for surgery.Some,e.g.,patent ductus arteriosus need‘wait and watch’policy up to a certain age in the hope of spontaneous recovery.Another extremely important category is that of patients where the operative intervention is done based on their age.Almost all the congenital anomalies coming under care of a plastic surgeon are operated as elective surgery(many as multiple stages of correction)at appropriate ages.There are advantages and disadvantages of intervention at different ages.In this article,we present a review of optimal timings,along with reasoning,for surgery of many of the common congenital anomalies which are treated by plastic surgeons.Obstetricians,paediatricians and general practitioners/family physicians,who most often are the first ones to come across such children,must know to guide the parents appropriately and convincingly impress upon the them as to why their child should not be operated immediately and also the consequences of too soon or too late.展开更多
目的:对一个家族遗传性多指并指畸形进行临床及分子遗传学分析。方法:对1个孕期提示胎儿多指并指畸形的家系行产前诊断。孕24+5周于泉州市妇幼保健院·儿童医院产前诊断行羊水穿刺,利用染色体核型分析对胎儿行染色体异常诊断。同时...目的:对一个家族遗传性多指并指畸形进行临床及分子遗传学分析。方法:对1个孕期提示胎儿多指并指畸形的家系行产前诊断。孕24+5周于泉州市妇幼保健院·儿童医院产前诊断行羊水穿刺,利用染色体核型分析对胎儿行染色体异常诊断。同时,利用全外显子组测序(whole exome sequencing,WES)分析胎儿微小变异。此外,通过实时荧光定量聚合酶链反应(quantitative real time polymerase chain reaction,qPCR)进行微缺失/微重复验证。结果:胎儿染色体核型结果未见异常。胎儿WES检测结果显示在7q36.3区域存在一个803.7 kb片段重复(seq[GRCh37]7q36.3(155865332_156669022)×3),包含RNF32基因以及LMBR1基因的2~17号外显子。依据美国医学遗传学与基因组学学会(the American College of Medical Genetics and Genomics,ACMG)指南,该重复判读为致病性。父母qPCR验证提示,该重复遗传自具有同样表型的父亲。结论:明确了7q36.3微重复为胎儿多指并指畸形遗传病因,该重复可能导致了三指节拇指-多并指/趾畸形综合征,其中LMBR1为其主要起效基因。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
BACKGROUND There is paucity of literature focusing on the incidence and surgical management of syndactyly. In this study, we describe the incidence and rates of surgical management of patients with syndactyly in New Y...BACKGROUND There is paucity of literature focusing on the incidence and surgical management of syndactyly. In this study, we describe the incidence and rates of surgical management of patients with syndactyly in New York State.AIM To describe the incidence and surgical management of patients with syndactyly using an America’s population-based database.METHODS We conducted a retrospective study using the New York State Statewide Planning and Research Cooperative System. All patients with a diagnosis of syndactyly at birth were identified and followed longitudinally to determine yearly incidence as well as demographic and surgical factors. Descriptive statistics and univariate analyses were used.RESULTS There were 3306 newborns with a syndactyly diagnosis between 1997 and 2014 in New York State. The overall incidence was 0.074% or 7 cases per 10000 live births.A small number of patients underwent surgical correction in New York State(178 patients, 5.4%). Among the surgical patients, most of the operations were performed before the age of two(79%). Approximately 87% of surgeries were performed at teaching hospitals, and 52% of procedures were performed by plastic surgeons. Skin grafting was performed in 15% of cases. Patients having surgery in New York State were more likely to have Medicaid insurance compared to patients not having surgery(P = 0.02).CONCLUSION Syndactyly occurs in approximately 7 per 10000 live births, and the majority of patients undergo surgical correction before age two. There may be severalbarriers to care including the availability of specialized hand surgeons, access to teaching hospitals, and insurance status.展开更多
Objective To investigate the value of special examination in the diagnosis of thumb syndactyly. Methods Fourteen cases of thumb deformities were detected preoperatively by X-ray plain film, angiography and ultrasound ...Objective To investigate the value of special examination in the diagnosis of thumb syndactyly. Methods Fourteen cases of thumb deformities were detected preoperatively by X-ray plain film, angiography and ultrasound examination. The deformities of bone, hemokinesis of thumbs and its blood supply were analysed. The results were compared with their pathological changes during the operation. The deformity was corrected by operations of bone resection, reconstruction of tendon insertion site and preservation of main arteries. Results There were bone deformities 13 cases, abnormal or absent tendon insertion of the main thumb 14 cases. The nutrient of the deformity thumb was supplied by main trunk artery in 11 cases. Conclusion Angiography and ultrasonic examination play an important role in the diagnosis of thumb syndactyly. It can help determine appropriate surgical procedure so that secondary deformities can be prevented after operation. 3 refs,5 figs.展开更多
文摘Apart from listening to the cry of a healthy newborn,it is the declaration by the attending paediatrician in the labour room that the child is normal which brings utmost joy to parents.The global incidence of children born with congenital anomalies has been reported to be 3%-6%with more than 90%of these occurring in low-and middle-income group countries.The exact percentages/total numbers of children requiring surgical treatment cannot be estimated for several reasons.These children are operated under several surgical disciplines,viz,paediatric-,plastic reconstructive,neuro-,cardiothoracic-,orthopaedic surgery etc.These conditions may be life-threatening,e.g.,trachea-oesophageal fistula,critical pulmonary stenosis,etc.and require immediate surgical intervention.Some,e.g.,hydrocephalus,may need intervention as soon as the patient is fit for surgery.Some,e.g.,patent ductus arteriosus need‘wait and watch’policy up to a certain age in the hope of spontaneous recovery.Another extremely important category is that of patients where the operative intervention is done based on their age.Almost all the congenital anomalies coming under care of a plastic surgeon are operated as elective surgery(many as multiple stages of correction)at appropriate ages.There are advantages and disadvantages of intervention at different ages.In this article,we present a review of optimal timings,along with reasoning,for surgery of many of the common congenital anomalies which are treated by plastic surgeons.Obstetricians,paediatricians and general practitioners/family physicians,who most often are the first ones to come across such children,must know to guide the parents appropriately and convincingly impress upon the them as to why their child should not be operated immediately and also the consequences of too soon or too late.
文摘目的:对一个家族遗传性多指并指畸形进行临床及分子遗传学分析。方法:对1个孕期提示胎儿多指并指畸形的家系行产前诊断。孕24+5周于泉州市妇幼保健院·儿童医院产前诊断行羊水穿刺,利用染色体核型分析对胎儿行染色体异常诊断。同时,利用全外显子组测序(whole exome sequencing,WES)分析胎儿微小变异。此外,通过实时荧光定量聚合酶链反应(quantitative real time polymerase chain reaction,qPCR)进行微缺失/微重复验证。结果:胎儿染色体核型结果未见异常。胎儿WES检测结果显示在7q36.3区域存在一个803.7 kb片段重复(seq[GRCh37]7q36.3(155865332_156669022)×3),包含RNF32基因以及LMBR1基因的2~17号外显子。依据美国医学遗传学与基因组学学会(the American College of Medical Genetics and Genomics,ACMG)指南,该重复判读为致病性。父母qPCR验证提示,该重复遗传自具有同样表型的父亲。结论:明确了7q36.3微重复为胎儿多指并指畸形遗传病因,该重复可能导致了三指节拇指-多并指/趾畸形综合征,其中LMBR1为其主要起效基因。
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BACKGROUND There is paucity of literature focusing on the incidence and surgical management of syndactyly. In this study, we describe the incidence and rates of surgical management of patients with syndactyly in New York State.AIM To describe the incidence and surgical management of patients with syndactyly using an America’s population-based database.METHODS We conducted a retrospective study using the New York State Statewide Planning and Research Cooperative System. All patients with a diagnosis of syndactyly at birth were identified and followed longitudinally to determine yearly incidence as well as demographic and surgical factors. Descriptive statistics and univariate analyses were used.RESULTS There were 3306 newborns with a syndactyly diagnosis between 1997 and 2014 in New York State. The overall incidence was 0.074% or 7 cases per 10000 live births.A small number of patients underwent surgical correction in New York State(178 patients, 5.4%). Among the surgical patients, most of the operations were performed before the age of two(79%). Approximately 87% of surgeries were performed at teaching hospitals, and 52% of procedures were performed by plastic surgeons. Skin grafting was performed in 15% of cases. Patients having surgery in New York State were more likely to have Medicaid insurance compared to patients not having surgery(P = 0.02).CONCLUSION Syndactyly occurs in approximately 7 per 10000 live births, and the majority of patients undergo surgical correction before age two. There may be severalbarriers to care including the availability of specialized hand surgeons, access to teaching hospitals, and insurance status.
文摘Objective To investigate the value of special examination in the diagnosis of thumb syndactyly. Methods Fourteen cases of thumb deformities were detected preoperatively by X-ray plain film, angiography and ultrasound examination. The deformities of bone, hemokinesis of thumbs and its blood supply were analysed. The results were compared with their pathological changes during the operation. The deformity was corrected by operations of bone resection, reconstruction of tendon insertion site and preservation of main arteries. Results There were bone deformities 13 cases, abnormal or absent tendon insertion of the main thumb 14 cases. The nutrient of the deformity thumb was supplied by main trunk artery in 11 cases. Conclusion Angiography and ultrasonic examination play an important role in the diagnosis of thumb syndactyly. It can help determine appropriate surgical procedure so that secondary deformities can be prevented after operation. 3 refs,5 figs.
