UNASSIGNED: To analyze the effectiveness comparison of external fixator combined with Kirschner wire fixation and Kirschner wire fixation in the treatment of cubitus varus deformity in children.
UNASSIGNED: A retrospective case-control study was conducted to collect 36 children of postoperative supracondylar humerus fracture complicating cubitus varus deformity between January 2018 and July 2022. Among them, 17 cases were treated with distal humeral wedge osteotomy external fixation combined with Kirschner wire fixation (observation group), and 19 cases were treated with distal humeral wedge osteotomy and Kirschner wire fixation (control group). The baseline data including age, gender, deformity side, time from fracture to operation, carrying angle of the healthy side and preoperative carrying angle of the affected side, elbow flexion and extension range of motion, and lateral condylar prominence index (LCPI) showed no significant difference between the two groups ( P>0.05). The operation time, hospitalization cost, healing time of osteotomy, postoperative complications, and the carrying angle, LCPI, and elbow flexion and extention range of motion were recorded and compared between the two groups. The elbow function was assessed by Oppenheim score at 3 months after operation and at last follow-up.
UNASSIGNED: The children in both groups were followed up 13-48 months, with an average of 26.7 months. There was 1 case of needle tract infection in the observation group and 2 cases in the control group, and no nerve injury occurred, the difference in the incidence of complication (5.88% vs 10.53%) between the two groups was not significant ( χ 2=0.502, P=0.593). There was no significant difference in the operation time and fracture healing time between the two groups ( P>0.05); the hospitalization cost of the observation group was significantly higher than that of the control group ( P<0.05). The Oppenheim score of the observation group was significantly better than that of the control group at 3 months after operation ( P<0.05), but there was no significant difference in the Oppenheim score between the two groups at last follow-up ( P>0.05). At last follow-up, the carrying angle of affected side significantly improved in both groups when compared with preoperative ones ( P<0.05); the differences of the pre- and post-operative carrying angle of affected side and elbow flexion and extension range of motion showed no significant differences between the two groups ( P>0.05), but the difference in pre- and post-operative LCPI of the observation group was significantly better than that of the control group ( P<0.05).
UNASSIGNED: External fixator combined with Kirschner wire fixation and Kirschner wire fixation both can achieve satisfactory correction of cubitus varus deformity in children, and the former can achieve better short-term functional recovery of elbow joint and reduce the incidence of humeral lateral condyle protrusion.
UNASSIGNED: 比较外固定架结合克氏针固定与克氏针固定治疗儿童肘内翻畸形的疗效。.
UNASSIGNED: 回顾分析2018年1月—2022年7月收治且符合选择标准的36例肱骨髁上骨折术后并发肘内翻畸形患儿临床资料。其中17例采用肱骨远端楔形截骨外固定架结合克氏针固定（观察组），19例采用肱骨远端楔形截骨克氏针固定（对照组）。两组患儿年龄、性别、畸形侧别、骨折至此次手术时间、健侧提携角及术前患侧提携角、肘关节屈伸活动度、外侧髁突出指数（lateral condylar prominence index，LCPI）等基线资料比较，差异均无统计学意义（ P>0.05）。记录并比较两组患儿手术时间、住院费用、截骨愈合时间、术后并发症及末次随访时患侧提携角、LCPI和肘关节屈伸活动度；术后3个月、末次随访时采用Oppenheim评分评估肘关节功能。.
UNASSIGNED: 两组患儿均获随访，随访时间13～48个月，平均26.7个月。观察组和对照组分别发生1例和2例针道感染，均无神经损伤发生，两组并发症发生率（5.88% vs 10.53%）比较差异无统计学意义（ χ 2=0.502， P=0.593）。两组手术时间和截骨愈合时间比较差异无统计学意义（ P>0.05）；观察组住院费用高于对照组（ P<0.05）。观察组术后3个月Oppenheim评分优于对照组（ P<0.05），但末次随访时两组Oppenheim评分比较差异无统计学意义（ P>0.05）。末次随访时，两组患侧提携角均较术前显著改善（ P<0.05）；两组间患侧提携角和肘关节屈伸活动度手术前后差值比较差异均无统计学意义（ P>0.05），但观察组LCPI手术前后差值优于对照组，差异有统计学意义（ P<0.05）。.
UNASSIGNED: 采用外固定架结合克氏针固定及单纯克氏针固定治疗儿童肘内翻畸形均可获得满意畸形矫正，而前者术后早期肘关节功能恢复更好，并可降低术后肱骨外侧髁突出的发生。.

BACKGROUND: Although physical, cognitive and behavioural manifestations of Williams syndrome (WS) affect every dimension of caregivers lives, no studies on the parental experiences of caring for a WS child have to date been carried out in Poland.
METHODS: In order to identify the challenges and needs of Polish carers of WS children a survey was conducted with 32 family caregivers who were supported by the Polish Williams Syndrome Association.
RESULTS: While caregivers were mostly challenged by their WS child\'s behaviours, health problems and mood swings, many parents experienced fatigue, intimacy problems with the partner and deterioration of mental health. They were also burdened by the lack of time for themselves and work restrictions resulting from caregiving responsibilities. Even though parents positively assessed quality of medical care for WS children, still many expressed their dissatisfaction both with the way the healthcare system for WS children works in Poland and complained about the doctors\' lack of knowledge about WS, access to specialist care and lack of support from government and social institutions. Although many parents stressed positive impact of rising WS child, more than half experienced role captivity or role overload and felt not being understood by others. They also experienced variety of distressing emotions, including impatience, emotional lability, helplessness, anxiety and depression.
CONCLUSIONS: Although many WS parents stressed the affirmative aspect of raising WS child this research shows that the burden of caring for such a child goes far beyond clinical aspects and seriously affects every aspect of parents\' lives, including their mental health, daily lives, family, their professional and social lives. Because apart from the daily challenges related to caring for a WS child, parents\' dealings with the healthcare system and support services represent major problems there is a the need for a bio-psychosocial approach to WS that should include not only WS children, but also their caregivers. WHAT THIS PAPER ADDS?: 1. It analyses the challenges and needs of parents caring for children with Williams syndrome; 2. It provides evidence that the impact of caring for WS children goes far beyond clinical aspects and seriously affects every aspect of parents\' lives, including their mental health, daily lives, family, their professional and social lives; 3. It also shows that, apart from the daily challenges related to caring for a WS child, parents\' dealings with the healthcare system and support services represent major problems. 4. Thereby, it highlights the importance of incorporating a bio-psychosocial approach to WS that should include not only WS children, but also their caregivers.

Limited data on the survival of anorectal malformation (ARM) patients from lower- and middle-income countries is available. This retrospective population-based study from the State of Johor, Malaysia, determines the incidence, mortality rate, and survival of ARM patients and factors associated with mortality. Kaplan-Meier survival analysis was used to estimate the survival of ARM patients at 1, 5, and 10 years. In addition, multivariate Cox regression analysis was used to analyze mortality-related factors. There were 175 ARM patients among 803,850 live births, giving an overall ARM incidence of 2.2 (95% confidence interval [CI], 1.9 to 2.5) per 10,000 live births. The male-to-female ratio was 1.5:1. There were 122 (69%) non-isolated ARM, of which 41 were Trisomy-21 and 34 had VACTERL association. Seventy-three (42%) had congenital heart disease (CHD), with 38 severe and 35 non-severe CHD. Overall, 33 (19%) patients died, with a median age of death of 5.7 months (interquartile range (IQR) 25 days to 11.2 months). The overall estimated 1-, 5-, and 10-year survival rate for ARM patients was 82% (95% CI, 76-89%), 77% (95% CI, 70-84%), and 77% (95% CI, 70-84%), respectively. Univariate analysis shows that non-isolated ARM, VACTERL association, and severe CHD were associated with mortality. However, only severe CHD is the independent factor associated with mortality, with a hazard ratio of 4.0 (95% CI, 1.9-8.4).  Conclusion: CHD is common among ARM patients, and one in five ARM patients had a severe cardiac defect, significantly affecting their survival. What is Known: • VACTERL association and congenital heart disease are common in patient with anorectal malformation. • Low birth weight and prematurity are associated with a lower rate of survival. What is New: • Congenital heart disease is common in ARM patients in a middle-income country. • Severe congenital heart disease plays a significant role in the survival of patients with an anorectal malformation in lower- and middle-income countries.

Studies on neurodevelopmental outcomes in individuals with congenital anomalies who undergo neonatal surgery are scarce and have reported contradictory findings based on small study groups. The congenital condition VACTERL association includes at least three malformations: vertebral anomalies, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal anomalies and limb deformities. Most of these patients undergo surgery during their first days of life. Neurodevelopmental disorders include a broad group of disabilities involving some form of disruption to brain development. Attention deficit hyperactivity disorder (ADHD), autism spectrum disorders (ASD) and intellectual disability (ID) are diagnoses included in this group. The aim of the study was to investigate the risk of ADHD, ASD and ID in a cohort of individuals with VACTERL association.
Data was obtained from four Swedish national health registers and analyzed using the Cox proportional hazards model. Patients born 1973-2018 in Sweden with the diagnosis of VACTERL association were included in the study. For each case five healthy controls matched for sex, gestational age at birth, birth year and birth county were obtained.
The study included 136 individuals with VACTERL association and 680 controls. Individuals with VACTERL had significantly higher risk of ADHD, ASD and ID than the controls; 2.25 (95% CI, 1.03-4.91), 5.15 (95% CI, 1.93-13.72) and 8.13 (95% CI, 2.66-24.87) times respectively.
A higher risk of ADHD, ASD and ID was found among individuals with VACTERL association compared to controls. These results are of importance to caregivers and to professionals participating in follow ups of these patients in providing early diagnosis and support, aiming to optimize the quality of life of these patients.

BACKGROUND: In children with anorectal malformations (ARM), additional anomalies can occur within the VACTERL-association. Routine screening is of great importance for early identification and potential treatment. However, uniformity in screening protocols is lacking and only small cohorts have been described in literature. The aim of this study was to assess and describe a unique large cohort of ARM patients who underwent VACTERL screening in the neonatal period.
METHODS: A retrospective mono-center cohort study was performed. Included were all neonates born between January 2000 and December 2020 who were diagnosed with ARM and screened for additional anomalies. Full screening consisted of x-ray and ultrasound of the spine, cardiac and renal ultrasound, and physical examination for limb deformities, esophageal atresia, and ARM. Criteria for VACTERL-classification were predefined according to the EUROCAT-definitions.
RESULTS: In total, 216 patients were included, of whom 167 (77.3%) underwent full VACTERL-screening (66% in 2000-2006 vs. 82% in 2007-2013 vs. 86% in 2014-2020). Median age at follow-up was 7.0 years (IQR 3.0-12.8). In 103/167 patients (61.7%), additional anomalies were identified. Some 35/216 patients (16.2%) fulfilled the criteria of a form of VACTERL-association. In 37/216 patients (17.1%), a genetic cause or syndrome was found.
CONCLUSIONS: The majority of ARM patients underwent full screening to detect additional anomalies (77%), which improved over time to 86%. Yet, approximately a quarter of patients was not screened, with the potential of missing important additional anomalies that might have severe consequences in the future. Forms of VACTERL-association or genetic causes were found in 16% and 17% respectively. This study emphasizes the importance of routine screening.
METHODS: III.

Amelia and phocomelia represent severe limb reduction defects. Specific epidemiologic data on these defects are scarce. We conducted a descriptive analysis of prevalence data in Finland during 1993-2008 to clarify the epidemiology nationwide in a population-based register study. We hypothesized that increasing maternal age would affect the total prevalence of each disorder.
We collected information on all fetuses and infants affected by amelia and phocomelia during 1993-2008 from the National Register of Congenital Malformations in Finland. The clinical, laboratory, autopsy, and imaging data were re-evaluated where available for all cases found.
A total of 23 amelia and 7 phocomelia patients were identified. Thalidomide was not an etiological factor in any of the cases. The total prevalence of amelia was 2.43 per 100,000 births. The live birth prevalence was 0.63 per 100,000 live births. The total prevalence of phocomelia was 0.74 per 100,000 births, and the live birth prevalence was 0.53 per 100,000 live births. Infant mortality in amelia and phocomelia was 67% and 60%, respectively.
Infant mortality is high among amelia and phocomelia. Most cases had other major associated anomalies, but syndromic amelia cases were rare. Total prevalences were higher than previously reported and showed an increase in prevalence toward the end of the study period. The percentage of elective terminations of pregnancy for these disorders is high. While isolated cases are rare, they most likely present a better prognosis. Thus, correct diagnosis is essential in counseling for possible elective termination.

BACKGROUND: Aplasia cutis congenita (ACC) is a rare congenital anomaly characterized by localized or widespread absence of skin at birth, mainly affecting the scalp. Most information about ACC exists as individual case reports and medium-sized studies.
OBJECTIVE: This study aimed to investigate the epidemiology of ACC, using data from a large European network of population-based registries for congenital anomalies (EUROCAT).
METHODS: Twenty-eight EUROCAT population-based registries in 16 European countries were involved. Poisson regression models were exploited to estimate the overall and live birth prevalence, to test time trends in prevalence between four 5-year periods and to evaluate the impact of the change of coding for ACC from the unspecific ICD9-BPA code to the specific ICD10 code. Proportions of ACC cases associated with other anomalies were reported.
RESULTS: Five hundred cases were identified in the period 1998-2017 (prevalence: 5.10 per 100,000 births). Prevalence across 5-year periods did not differ significantly and no significant differences were evident due to the change from ICD9 to ICD10 in ACC coding. Heterogeneity in prevalence was observed across registries. The scalp was the most common site for ACC (96.4%) and associated congenital anomalies were present in 33.8% of cases. Patau and Adams-Oliver syndromes were the most frequent among the associated chromosomal anomalies (88.3%) and the associated genetic syndromes (57.7%), respectively. 16% of cases were associated with limb anomalies and 15.4% with congenital heart defects. A family history of ACC was found in 2% of cases.
CONCLUSIONS: To our knowledge, this is the only population-based study on ACC. The EUROCAT methodologies provide reliable prevalence estimates and proportions of associated anomalies.

BACKGROUND: VACTERL association is defined by the presence of 3 or more anomalies in any of the following systems: vertebral, anorectal, cardiac, trachea-esophageal, renal, or limb. This study hypothesized that the presence of VACTERL association would correlate with an increased risk of gynecologic anomalies in patients with anorectal malformation (ARM).
METHODS: This study is a cross-sectional, retrospective analysis from the prospectively collected, multicenter registry of the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC). The 834 female patients with ARM who were enrolled in the registry by January 1, 2020 were included in this study. The relationship of VACTERL association with presence of a gynecologic anomaly was evaluated with Fisher\'s exact test. The relationship of each VACTERL system with presence of a gynecologic anomaly was assessed in patients with cloaca, rectovestibular fistulas and rectoperineal fistulas. P-values reported were based on a 2-sided alternative and considered significant when less than 0.05.
RESULTS: 834 patients with ARM underwent VACTERL screening and gynecologic evaluation with the three most common subtypes being cloaca (n = 215, 25.8%), rectovestibular fistula (n = 191, 22.9%) and rectoperineal fistula (n = 194, 23.3%). A total of 223 (26.7%) patients with ARM had gynecologic anomalies. VACTERL association was seen in 380 (45.6%) of patients with ARM. Gynecologic anomalies were present in 149 (39.1%) vs. 74 (16.3%) of subjects with vs. without VACTERL association (p < 0.001). VACTERL association did not significantly increase the risk of gynecologic anomaly in patients with cloaca and VACTERL (n = 88, 61.5%) vs. cloaca without VACTERL (n = 39, 54.2% p = 0.308). VACTERL association increased the risk of gynecologic anomalies in patients with rectoperineal fistulas (n = 7, 14.9% vs n = 9, 6.1% p = 0.014) and rectovestibular fistulas (n = 19, 31.1% vs. n = 13, 10.0% p<0.001). In patients with ARM who had a VACTERL association, when one of the associated anomalies was renal, there was an even higher risk of having an associated gynecologic anomaly (n = 138, 44.2% vs. n = 85, 16.3% p<0.001).
CONCLUSIONS: VACTERL association in patients with rectoperineal and rectovestibular fistulas correlates with an increased risk of gynecologic anomalies. The presence of VACTERL associated findings, especially renal, should prompt a thorough evaluation of the gynecologic system.
METHODS: III. Retrospective comparative study.

Current knowledge of transitional care from the perspective of individuals with congenital malformations is scarce. Their viewpoints are required for the development of follow-up programs and transitional care corresponding to patients\' needs. The study aimed to describe expectations, concerns, and experiences in conjunction with transfer to adult health care among adolescents, young adults, and adults with VACTERL association, (i.e. vertebral defects, anorectal malformations (ARM), cardiac defects (CHD), esophageal atresia (EA), renal, and limb abnormalities). Semi-structured telephone interviews were performed and analyzed with qualitative content analysis. Of 47 invited individuals, 22 participated (12 males and 10 females). An overarching theme emerged: Leaving the safe nest of pediatric health care for an unfamiliar and uncertain follow up yet growing in responsibility and appreciating the adult health care. The participants described expectations of qualified adult health care but also concerns about the process and transfer to an unfamiliar setting. Individuals who were transferred described implemented or absence of preparations. Positive and negative experiences of adult health care were recounted including being treated as adults. The informants described increasing involvement in health care but were still supported by their parents. Ongoing follow up of health conditions was recounted but also uncertainty around the continuation, missing follow up and limited knowledge of how to contact health care. The participants recommended information ahead of transfer and expressed wishes for continued health care with regular follow up and accessibility to a contact person. Based on the participants\' perspective, a transitional plan is required including early information about transfer and follow up to prepare the adolescents and reduce uncertainty concerning future health care. Meetings with the pediatric and adult team together with the patient and the parents are essential before transfer. Follow up should be centralized to centers with multi-professional teams well-experienced with the condition. Further studies are warranted to evaluate the transition process for adolescents and young adults with complex congenital health conditions.

Background: Clinical manifestations of camptodactyly are varied and no official consensus on the etiopathogenesis or best treatment is available. Conservative treatment is generally preferred and, in refractory patients, surgery might be considered. However, reported results of surgery are often unsatisfactory and it is difficult to compare outcomes as different classification systems are adopted. We reported the outcomes of surgical treatment of camptodactyly with the Malek cutaneous approach and stepwise release, assessed using the Siegert classification. Methods: A retrospective analysis of paediatric patients (≥1 and ≤18 years) with congenital camptodactyly refractory to conservative management (flexion contracture >30°), treated with Malek cutaneous approach and stepwise release surgery between June 2009 and June 2019 with at least 1 year of follow-up was performed. Pre- and post-operative clinical and radiographic assessments were evaluated for degrees of flexion contractures and early (<30 days) or late (>30 days) complications were recorded. Results: A total of 59 patients underwent surgery, of whom 38 (64%), including 42 fingers, were enrolled; mean patient age was 8 years (range 1-18). Post-operative mean flexion contracture was significantly improved (p > 0.001) and no infections were recorded. Mean follow-up was 6 years (range 1-10) and proximal interphalangeal joint extension deficits were rated according to Siegert classification as excellent (69%), good (12%), or fair (9.5%) and poor (9.5%). Conclusions: The Malek cutaneous approach and stepwise release of the retracting soft tissues allow prompt evaluation of the anatomical structures involved in the deformity and seem to be an effective surgical correction in the long term. Level of Evidence: Level IV (Therapeutic).