先天性脊柱畸形合并椎管内神经系统畸形发病因素分析

目的 了解先天性脊柱畸形患者中椎管内畸形的发生情况,并探讨发病相关因素.方法 选取2003年3月至2009年10月经本院治疗的610例先天性脊柱畸形患者,术前行病史采集,脊柱CT、MR、腹部B超,心脏彩超等检查,了解脊柱、椎管内畸形及其他系统畸形情况.结果 先天性脊柱畸形患者中椎管内神经系统畸形的发生率为33.0%(201/610),在发病与性别、胎次、父母亲年龄、出生地、脊柱畸形分类、侧弯部位、侧凸方向以及是否合并泌尿系畸形,心血管畸形,肋骨及胸壁畸形等方面比较,差异均无统计学意义.而脊柱侧弯Winter分型为混合型者,在椎管内神经系统畸形组较无畸形组发生率高,差异有统计学意义(P=0.009).结论 先天性脊柱畸形患者椎管内神经系统畸形的发生率较高,需引起临床重视,建议行CT结合MRI检查,以早期发现,避免漏诊,并予适当处理.     

先天性脊柱侧弯合并肋骨畸形及其对肺功能影响的分析

目的比较先天性脊柱侧弯患者肺功能情况与脊柱畸形、肋骨畸形之间的关系,分析肺功能受损的相关因素。方法总结203例先天性脊柱侧弯患者肺功能检查结果和脊柱畸形、肋骨畸形情况,分析肺功能结果与脊柱侧弯和肋骨畸形等相关影像学因素之间的关联。结果先天性脊柱侧弯患者肺功能不同程度下降,均为限制性改变;Cobb角与肺功能肺活量实测值/预计值(VCmax%)存在相关性(P0.01);去除Cobb角因素,胸段组脊柱侧弯患者肺功能低于胸腰段组(P0.01);203例中,肋骨畸形的发生率约45.8%,其中合并肋骨缺如26例,肋骨融合56例,肋骨缺如与融合11例;合并连续3根以上肋骨融合的患者25例,其肺功能较非合并严重肋骨畸形的患者差(P0.05)。结论先天性脊柱侧弯患者肺功能不同程度降低,侧弯越严重,累计胸廓畸形的范围越大,尤其是合并广泛肋骨畸形时,其降低越明显。     

澳门地区366例先天性畸形临床资料分析

目的了解澳门地区先天性畸形的发生情况及可疑危险因素.方法对1991～1995年出生,并经澳门仁伯爵医院儿科医生诊断为先天性畸形患儿进行分析.结果先天性畸形发生率为11.5%,病死率为3.8%.在单一畸形中,出现频率最多的3种依次是唇裂及颚裂(10.9%),副耳廓畸形(10.4%),多指、拼指及四肢短缺畸形(8.5%);以系统而言,出现频率最多的3项依次是涉及除唇裂、颚裂之外的头面及五官畸形(14.5%),四肢骨骼系统畸形(13.9%)及消化系统畸形(13.9%).先天愚型仅占总出生人数的0.9‰,它是染色体异常的重要构成(占71.8%).复合畸形占总畸形数的17.5%.母亲年龄及父亲年龄均以染色体异常组为高.结论本次研究并未发现澳门地区有严重的先天性畸形发生水平.加强对先天性畸形的监测与研究是提高人口素质重要一环.     

先天性肛门直肠畸形直肠末端PGP9.5和S-100蛋白表达的临床研究

目的 研究先天性肛门直肠畸形末端肠壁内神经系统发育情况.探讨术后排便功能障碍的病理机制.方法 收集2001年1月至2005年12月先天性肛门直肠畸形结肠盲端标本76例(包括高位11例,中位26例,低位39例).记录平均胎龄、出生体重及取得直肠标本时的年龄.采用免疫组织化学方法检测PGP9.5和S-100蛋白在上述标本中的表达水平.结果 不同类型先天性肛门直肠畸形患儿m生时胎龄和平均体重比较无统计学意义.PGP9.5和S-100在高位畸形患儿中的表达明显低于中位畸形(高位vs中位,PGP 9.5:0.422±0.008 vs 0.447±0.006,P值=0.0226;S-100:0.417±0.009 vs0.442±0.007,P值=0.0401)和低位畸形(高位vs低位,PGP9.5:0.422±0.008 vs 0.450±0.009,P值=0.0331;S-100:0.417±0.009 vs 0.447±0.010,P值=0.0436);中位和低位畸形比较.差异无统计学意义(P>0.05);中位畸形一期手术组直肠末端PGP 9.5和S-100的表达明显低于分期手术组(PGP 9.5:0.421±0.010 vs 0.453±0.006,P值=0.0128;S-100:0.4134-0.010 vs 0.449±0.006,P值:0.0048);低位畸形26例男性患儿取得直肠盲端标本时的平均年龄为(0.11±0.08)个月,13例女性患儿平均年龄为(6.15±0.29)个月(P<0.0001),但直肠末端PGP9.5和S-100的表达差异无统计学意义(P>0.05).结论 先天性肛门直肠畸形末端肠壁内神经系统的发育程度与畸形位置密切相关,这可能是高位畸形术后排便障碍的发生机制之一,中位畸形肓端肠壁内神经系统的发育可随年龄逐渐趋向于成熟.     

儿童先天性脊柱侧凸合并泌尿系畸形临床分析

目的了解儿童先天性脊柱侧凸合并泌尿系畸形的发生情况,分析并总结其临床特点。方法回顾性分析本院2005年12月至2016年6月收治的75例第一诊断为先天性脊柱侧凸患儿的临床资料,其中男性40例,女性35例,平均首诊年龄4岁5个月。结果 75例患儿中,先天性脊柱侧凸合并肾脏畸形50例(孤立肾22例,异位肾9例,马蹄肾7例,重肾8例,异位融合3例,分支状肾盂1例),隐睾8例,尿道下裂9例,其他泌尿系异常10例(4例泌尿系结石,1例双侧输尿管囊肿,2例双肾积水,1例神经源性膀胱,1例脐尿管囊肿,1例遗尿)。首次住院前仅4例完成尿道下裂修复手术,l例接受输尿管切开取石手术。所有病例行脊柱矫形手术时均未对泌尿系畸形进行手术干预。本组病例脊柱侧凸矫正顺利,效果满意。脊柱矫形术后随访3个月至10年1个月,平均6年3个月。结论先天性脊柱侧凸合并泌尿系畸形较常见,细致的体格检查、腹部B超,结合脊柱CT筛查能尽早发现,针对性随访及处理泌尿系畸形,改善患儿远期预后。     

隐睾及隐睾合并其他泌尿生殖系统畸形的外显子测序分析

目的对隐睾及隐睾合并其他泌尿生殖系统畸形的不同表型患儿进行外显子测序,以探索不同临床表型的分子病因。方法提取19例隐睾及隐睾合并其他泌尿生殖系统畸形患儿外周血基因组DNA进行外显子测序,并对测序结果进行生物信息学分析,其中3例行全基因外显子测序,16例行常见基因外显子测序,再采用Sanger测序对获得候选致病突变的患儿及其父母的外周血样本进行突变位点验证。结果本研究纳入的19例患儿中,6例外显子测序结果经生物信息学分析后发现存在异常结果,并提示有3个基因可能与相关表型发病有关:①AR基因发生3处错义突变(c.1600C>A;p.Pro534Thr)、(c.2599G>A;p.Val867Met)和(c.528C>A;p.Ser176Arg);②NR5A1基因发生移码突变(c.442delG;p.Glu148Serfs*148)和错义突变(c.43G>A;p.Val15Met);③ATRX基因发生剪切位点突变(c.4317+13T>C)。其中c.2599G>A和c.43G>A为已知突变,其余4处未见相关研究报道,为新发突变。Sanger测序结果表明6处突变均得以验证,5例患儿母亲存在对应位点突变、患儿父亲未见异常,1例患儿父母均未见异常。结论AR基因错义突变、NR5A1移码和错义突变及ATRX的剪切位点突变可能是隐睾及隐睾合并其他泌尿生殖系统畸形发病的危险因素。     

食道闭锁合并其他消化道畸形手术方式的选择

先天性食道闭锁是小儿外科常见消化道畸形,其发病率约为1/3 500[1].食道闭锁常常合并其他器官系统畸形,如其他消化道畸形、心血管畸形、泌尿生殖系统畸形、脊柱四肢畸形等[2-5],因此,术前对患儿其他器官系统正确、综合评估对于手术方式的合理选择、确保预后及康复至关重要.     

7年间收治先天性疾病患儿451例临床分析

目的 了解唐山市妇幼保健院新生儿科收治的先天性疾病患儿发病情况.方法 对2000年11月至2007年10月7年间收治的先天性疾病新生儿451例进行回顾性分析及总结.结果 先天性疾病的发生以先天性心脏病为主(61.0%),其次是先天性消化道畸形(10.4%)、染色体病(6.9%)、脊柱四肢畸形(5.1%)、泌尿生殖系统畸形(4.9%)、五官畸形(4.9%)等.农村发病率高于城市.结论 应加强优生宣传及围生期保健,做好产前筛查及产前诊断,减少先天性疾病的发生.     

7年间收治先天性疾病患儿451例临床分析

目的 了解唐山市妇幼保健院新生儿科收治的先天性疾病患儿发病情况.方法 对2000年11月至2007年10月7年间收治的先天性疾病新生儿451例进行回顾性分析及总结.结果 先天性疾病的发生以先天性心脏病为主(61.0%),其次是先天性消化道畸形(10.4%)、染色体病(6.9%)、脊柱四肢畸形(5.1%)、泌尿生殖系统畸形(4.9%)、五官畸形(4.9%)等.农村发病率高于城市.结论 应加强优生宣传及围生期保健,做好产前筛查及产前诊断,减少先天性疾病的发生.     

EarWell耳廓矫正器治疗先天性耳廓形态畸形的效果评估

目的评估EarWell耳廓矫正器纠正先天性耳廓形态畸形的疗效。方法以2017年1月至2017年12月湖南省儿童医院收治的48例先天性耳廓形态畸形患儿为研究对象,48例均通过EarWell耳廓矫正器进行矫治并接受随访,统计不同年龄段患儿治疗时间、治疗效果相关指标、并发症发生率及复发率,并由医生和家长分别对疗效作出主观评价。结果 48例患儿日龄范围14～78 d,平均日龄(40. 95±0. 82) d,平均治疗时间(21. 67±0. 43) d。不同年龄段患儿的性别、患病侧别及患病类型分布均没有统计学差异(P0. 05)。医生及患儿家长分别认为EarWell耳廓矫正器治疗先天性耳廓形态畸形的有效率达89. 58%、91. 67%。48例中2例出现并发症,均为皮肤溃疡;随访过程中无一例复发。患儿年龄与治疗时间呈正相关(P 0. 05),与医生及患儿家属的疗效评定等级呈负相关(P 0. 05)。结论应用EarWell耳廓矫正器矫治先天性耳廓形态畸形安全有效,患儿发病后及早进行矫治能够缩短治疗时间、提高治疗效率。     

Congenital malformations in the newborn--a prospective study

In a prospective study of 4098 births the incidence of congenital malformations was 1.464 per 100 births. Major malformations were seen in 1.1% births and minor malformations in 0.4% births. Patterns of congenital anomalies included multiple anomalies (37.68%), CNS malformations (13.33%), alimentary tract anomalies (6.66%), cardiovascular malformations (8.99%), genitourinary malformation (6.66%), limb anomalies (13.33%), and anomalies of skin and appendages (13.33%). Factors like maternal age, hormone testing and drug ingestion during pregnancy, radiation exposure and maternal infections were identified as possible risk factors for congenital malformations in the newborn.     

Segmental costovertebral malformations: association with neural tube defects. Report of 3 cases and review of the literature.

Patients with spondylocostal dysostosis (SCD) have vertebral abnormalities and numerical or structural rib anomalies that produce thoracic asymmetry. Rib anomalies and dysmorphism are the typical features that differentiate this syndrome from spondylothoracic dysostosis (STD). Jarcho-Levin syndrome is a severe form with involvement of the whole vertebral column. Other associated findings such as congenital heart defects, abdominal wall malformations, genitourinary malformations and upper limb anomalies may be found; in addition, neural tube defects (NTDs) have been associated with this malformation. SCD is transmitted both in a recessive form and as a dominant defect. We report on 3 children with SCD; 2 also had NTDs. All of them were studied with X-rays and spinal magnetic resonance (MR), and over the same period they underwent multidisciplinary clinical functional evaluation. One of our cases with NTD also presented polythelia, which has not previously been described in patients with SCD. The common association of segmental costovertebral malformations with NTDs could be related to an early gastrulation genomic defect, or one after gastrulation, when there are two independent somitic columns. The latter sometimes progresses and then involves primary and secondary neurulation. Also, the association of SCD with NTDs could be related to the interaction of different genes, resulting in this complex phenotype. Therefore, additional genetical and embryological studies are necessary to provide evidence of an etiological link between SCD and NTD.     

Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association

The goal of this study was to describe a novel pattern of genitourinary (GU) anomalies in VACTERL association,which involves congenital anomalies affecting the vertebrae,anus, heart, trachea and esophagus, kidneys, and limbs.We collected clinical data on 105 patients diagnosed with VACTERL association and analyzed a subset of 89 patients who met more stringent inclusion criteria. Twenty-one percent of patients have GU anomalies, which are more severe (but not more frequent) in females. Anomalies were noted in patients without malformations affecting the renal, lower vertebral, or lower gastrointestinal systems. There should be a high index of suspicion for the presence of GU anomalies even in patients who do not have spatially similar malformations.     

Jarcho-Levin syndrome presenting with diaphragmatic hernia.

Jarcho-Levin syndrome (spondylothoracic or spondylocostal dysostosis) is an eponym that is used to define individuals with a short neck, short trunk, and short stature and multiple vertebral anomalies. The prognosis is directly related to respiratory complications. Reported findings associated with Jarcho-Levin syndrome include congenital heart defects, abdominal wall malformations, genitourinary malformations, upper limb anomalies, and neural tube defects. We report on a 6-day-old girl who presented with an incomplete form of Jarcho-Levin syndrome with late-presenting congenital diaphragmatic hernia and congenital heart disease.     

One hundred three consecutive patients with anorectal malformations and their associated anomalies

OBJECTIVE: A long-term retrospective analysis of 103 infants with anorectal malformations (ARMs) was conducted to describe any associated congenital anomalies and surgical classifications. DESIGN: Retrospective medical record review. SETTING: This case series was conducted on all infants with ARMs born at, or referred to, any of 3 major medical centers in Wichita, Kan, for close to a 22-year period. PATIENTS: The 103 infants in this study represent a consecutive sample of patients with ARMs. Patients were separated into 2 groups: isolated ARMs without associated anomalies (n = 30), and ARMs with associated anomalies (n = 73). The male-female ratio was 2:1. MAIN OUTCOME MEASURES: Patients with associated anomalies were further classified into groups of ARMs with minor anomalies; major anomalies; chromosomal abnormalities; and malformation syndromes, associations, or sequences. Only anomalies that occurred more than once were reported. Malformations were also classified according to major organ systems. RESULTS: The incidence of ARMs in our study was approximately 1 in 2500 live births. Additional anomalies were found in 71% of infants with ARMs. Associated anomalies by major organ system included genitourinary anomalies (49%), musculoskeletal anomalies (43%), craniofacial anomalies (34%), cardiovascular anomalies (27%), gastrointestinal anomalies (18%), respiratory anomalies (13%), and central nervous system anomalies (12%). The most common chromosomal abnormalities were trisomies (8%), and ARMs were associated with VATER complex (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, and radial and renal anomalies) in 11 cases (11%) and VACTERL (vertebral, anal, cardiac, tracheal, esophageal, renal, and limb anomalies) in 4 cases (4%). CONCLUSIONS: Patients with ARMs have a high incidence of associated congenital anomalies. Evaluation of the most commonly affected organ systems in these infants is essential because it is these associated anomalies that account for most of the morbidity and mortality that is associated with this condition.     

Spinal deformity in patients born with oesophageal atresia and tracheo-oesophageal fistula.

Spinal deformity was present in 58 (19%) of 302 patients born with oesophageal atresia and fistula when examined at review. This was present in 24 (47%) of 51 patients with vertebral anomalies and 34 (14%) of 251 patients with normal vertebrae. Scoliosis was present in 21 patients with vertebral anomalies, torticollis in two, and lordosis in one. Two thirds of the patients with congenital scoliosis have had or are likely to require operation, compared with five patients with non-congenital scoliosis. Scoliosis associated with mixed vertebral anomalies in the lower thoracic spine had the worst prognosis. The medical records of a further 64 patients who had survived operation but who could not be traced were reviewed, and indicated that four had had congenital vertebral anomalies but none had a spinal deformity. We recommend early detection of vertebral anomalies in this group and careful follow up of patients with these abnormalities.     

Oesophageal atresia and vertebral anomalies

Oesphageal atresia and/or tracheo-oesophageal fistula are relatively common congenital anomalies, occurring once in 3, 000 births [6, 10]. Associated anomalies are seen frequently, and in a series of 538 patients admitted to the Royal Children's Hospital, Melbourne, 256 had additional anomalies (47.5%). Evaluation of the spine was possible in 345 patients; in 57, structural vertebral anomalies were present (16.5%). Of the 57 with a structural abnormality of the spine, 40 had an abnormality of formation, 6 an abnormality of segmentation, and 10 had a combined defect. In the other patient, a bipartite cervical vertebra was present. Eight patients had scoliosis without a recognisable congenital spinal abnormality. In 81 there was a congenital rib abnormality; 56 of this group had a normal spine, 24 had a structural abnormality of the spine, and in 1 patient scoliosis was present without a structural abnormality of the spine. Comparison is made between our findings and the findings in other reported series and comments are made on the significance of spinal and/or rib anomalies in association with oesophageal atresia. Offprint requests to: N. A. Myers     

Congenital malformations in Shimla

Congenital malformations were studied over a period of five years in 10, 100 consecutive births including still births at Indira Gandhi Medical College, Shimla. Out of these, 180 babies had one or the other congenital malformations and the overall incidence was 1.78%. Amongst the 311 still born babies 47 had congenital malformations indicating that the incidence of congenital malformations was much higher in still born babies (15.1%) as compared to the live born babies (1.3%). The malformations involving the central nervous system were the commonest (40%) followed by musculoskeletal system (23.8%) while genitourinary system malformations were the least common and accounted for 3.8% of the cases. Incidence of congenital malformations was the highest in mothers over 35 years of age and gravida four and more. The incidence was 2.8% in both the groups; the incidence of congenital malformation was more in babies weighing < 2500 gms and was 2.6%.     

Congenital anomalies associated with rhabdomyosarcoma: an autopsy study of 115 cases. A report from the Intergroup Rhabdomyosarcoma Study Committee (representing the Children's Cancer Study Group, the Pediatric Oncology Group, the United Kingdom Children's Cancer Study Group, and the Pediatric Intergroup Statistical Center)

Congenital anomalies were identified in 37 of 115 (32%) children and adolescents autopsied with rhabdomyosarcoma. An analysis of sex, age, site, and histology of cases with or without congenital anomalies showed no significant differences. Of the 45 identified anomalies, 14 were considered major and 31 minor. The distribution of the anomalies by system included central nervous (9), genitourinary (10), gastrointestinal (13), and cardiovascular systems (4). Ten patients had complex or miscellaneous anomalies. There was one child with each of the following: Rubinstein-Taybi syndrome, neurofibromatosis, single horseshoe kidney, hemihypertrophy, and Arnold-Chiari malformation. Aniridia was not noted in any case of rhabdomyosarcoma. Individuals with rhabdomyosarcoma have an increased incidence of genitourinary anomalies similar to that in Wilms' tumor. Recent molecular genetic investigations have suggested that rhabdomyosarcoma, Wilms' tumor, and hepatoblastoma share a common pathogenetic mechanism involving chromosome 11. The uniquely increased association of central nervous system anomalies with rhabdomyosarcoma and absence of aniridia would support a different gene locus operative on chromosome 11 for individuals with rhabdomyosarcoma compared to Wilms' tumor. Extensive epidemiologic studies now in progress in patients with rhabdomyosarcoma should provide the incidence of congenital anomalies and potential linkage with prenatal events.     

Congenital malformations in Kumasi,Ghana: prognosis for surgical cases

One hundred sixty-one cases of congenital anomalies admitted to the special ward for sick children over a period of 4 years have been analyzed with regard to incidence of individual diagnoses, age at admission, place of delivery, and overall and postoperative mortality. The malformations involved the abdomen, gastrointestinal and digestive systems (40.4%), head and neck (19.9%), vertebral column and extremities (28.0%), and urinogenital system (6.2%). The most frequent were anorectal malformations (26.7%), followed by cleft lip and cleft palate (14.3%), spina bifida (13.7%), exomphalos (9.3%), and talipes (7.5%). In all, 143 cases (88.8%) should have been amenable to surgery, but only 86 (53.4%) were operated upon. An overall high mortality (33.5%) was attributed to places of delivery with inadequate medical facilities, delayed referral to more competent health institutions, poor general condition of the patients, associated anomalies, and complications. Postoperative mortality was also high for the same reasons. Institution of specific registry or monitoring programs and improvement of medical facilities is recommended to enhace the prognosis for children with congenital malformations. Offprint requests to: D. nii-Amon-Kotei