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.

Congenital anomalies (CAs) are an important cause of infant mortality and efficient surveillance is necessary for their prevention. Therefore, the objective of this study is to establish baselines of prevalence at birth of priority CAs for surveillance in the state of Santa Catarina, using data from the Live Birth Information System considering the period 2011-2019 (baseline) and 2020 (pandemic year). The analyses were carried out based on the mother\'s residence health macroregion. The CAs were selected following the ICD-10 coding for chapter XVII. Birth prevalence was calculated per 10,000 live births and the confidence interval was established at 95%. 2011-2019 recorded 88.8/10,000 births with CAs (total). For 2011-2019, limb defects (without polydactyly) were the most prevalent (14.1/10,000), followed by congenital heart defects (8.9), oral clefts (8.2), polydactyly (7.9), Down syndrome (5.6), hypospadias (5.4), neural tube defects (4.7), gastroschisis (3.3), undefined sex (1.2), microcephaly (0.8) and omphalocele (0.3). There were no significant differences in temporal and spatial distribution. However, unusual fluctuations were observed in 2020, which may reflect the pandemic in CAs notifications. In the base period, Santa Catarina recorded CAs below the expected level of being identified at birth. With this, we conclude that the training and awareness of teams are essential for the surveillance of CAs in Santa Catarina.

Background Spinal dysraphism, characterized by incomplete closure of neural and bone spinal structures, manifests as congenital fusion abnormalities along the dorsal midline, involving the skin, subcutaneous tissue, meninges, vertebrae, and neural tissue. Magnetic resonance imaging (MRI), the preferred imaging modality for assessing spinal dysraphism across all age groups, provides direct visualization of the spinal cord without the need for contrast or ionizing radiation while also eliminating bone artifacts and allowing multiplanar imaging. The objective of this study was to evaluate the range of spinal dysraphism lesions and assess the significance of MRI in their evaluation. Methodology Thirty patients with suspected spinal dysraphism underwent evaluation at the Medical College Hospital and Study Centre in Vijayapur, India. This cross-sectional observational study included patients diagnosed or provisionally diagnosed with spinal dysraphism based on clinical and imaging profiles. Cases were identified through preliminary findings on radiographs. Results The study encompassed individuals aged one month to 20 years, with the largest proportion of patients (36.67%) falling within the 1-5-year age group. Spina bifida was the most prevalent spinal abnormality, accounting for 70% of cases. In 12 patients (40%), the most prevalent location of involvement was the lumbosacral spine. Conclusion MRI provides excellent tissue differentiation, particularly of lipomatous tissue, with reproducible and comprehensive section planes and relative operator independence. Moreover, MRI is beneficial for children with suspected spinal dysraphism as it can be performed without ionizing radiation, biological risks, or the need for intrathecal contrast media.

The objective of this study is to describe the rehabilitation of individuals with Congenital Malformations (CMF) during the use of an External Fixator (EF) in Aquatic Therapy (AT) and to analyze the association between diagnosis, EF type and location with rehabilitation process outcomes, surgical intervention, and adverse effects.
This retrospective study included 29 medical records from which the personal and rehabilitation data of the patient were collected. The AT used was described and the outcome variables were associated. The medical records were selected by screening the database of the CMF clinic at the AACD. The inclusion criteria were participants with CMF who used EF treated between 2011 and 2019 of both genders and without age restriction. The exclusion criteria were incomplete medical record data or not undergoing AT while using EF. The extracted data included diagnosis, gender, age, EF type and location, objective of the surgery, adverse events, surgical interventions, time of rehabilitation in AT, physiotherapeutic objectives, and rehabilitation process outcomes in AT.
The mean age of the participants was 12.1 ± 3.99 years, with male predominance (55 %) and hemimelia cases (37 %). The most used EF was circular (51 %), located in the femur (37 %), and the main objective of surgery was bone lengthening (52 %). The most recurrent adverse effect was infection (62 %) and 76 % completed AT. There was no association between the variables analyzed.
It was possible to describe CMF rehabilitation with EF in AT. There was no association between the variables analyzed.

Introduction Congenital malformation studies serve several purposes, including establishing baseline rates, monitoring changes over time, exploring the origins of these defects, and helping in planning health services. Increasing public awareness about pediatric surgical interventions is another goal of these studies. However, the impact of congenital malformations is often underestimated in developing countries due to insufficient healthcare data and diagnostic facilities, particularly in rural areas. Families affected by the birth of a child with congenital malformations face significant stress and hardship. Methods The main aims of this study were to evaluate the clinical pattern of congenital structural malformations in our region (Uttarakhand, India), identify possibly associated factors of congenital malformations, and find out the immediate outcome of congenital malformations in enrolled participants. Results Among a total of 150 cases, 73 (48.7%) cases were inborn, whereas 77 (51.3%) cases were outborn. Investigation of congenital malformation revealed cleft lip or palate in 37 (24.7%) cases, congenital heart disease (CHD) in 33 (22%) cases, meningomyelocele (MMC) in 18 (12.0%) cases, anorectal malformation (ARM) in 11 (7.3%) cases, hypospadias in 10 (6.7%) cases, congenital talipes equinovarus (CTEV) in nine (6.0%) cases, tracheoesophageal fistula (TEF) in nine (6.0%) cases, polydactyly in seven (4.7%) cases, pelviureteric junction obstruction (PUJO) in four (2.7%) cases, duodenal atresia in three (2.0%) cases, midgut volvulus in three (2.0%) cases, umbilical sinus in two (1.3%) cases, sacrococcygeal teratoma (SCT) in one (0.7%) case, phimosis in one (0.7%) case, microtia in one (0.7%) case, and micrognathia in one (0.7%) case. Mortality was observed in 11 (7.3%) cases, whereas 105 (70%) cases were successfully discharged. Among 11 mortality cases, the cause of death was CHD in seven (63.2%) cases, TEF+CHD in two (18.1%) cases, MMC in one (9%) case, and duodenal atresia in one (9%) case. Conclusion Contrary to the common belief that advanced maternal age of greater than 35 years is a major cause, 86.6% of the congenital structural anomalies in our hospital-based study in Uttarakhand occurred in babies of mothers belonging to the age group of 18-30 years. Also, consanguineous marriage was observed in only 3.3% of cases, indicating that it may not be a major contributing factor causing congenital structural malformations in our region. External congenital anomalies are most commonly observed (60.7%), with cleft lip and cleft palate being the most common. The most frequently observed internal congenital anomaly is CHD (22%) followed by gastrointestinal (GI) (18.6%) and urinary anomalies (10.1%). Death and referral are commonly seen in CHD.

UNASSIGNED: The etiology and risk factors of congenital vertebral anomalies are mainly unclear in isolated cases. Also, there are no reports on the risk factors for different subgroups of vertebral anomalies. Therefore, we assessed and identified potential maternal risk factors for these anomalies and hypothesized that diabetes, other chronic diseases, smoking, obesity, and medication in early pregnancy would increase the risk of congenital vertebral anomalies.
UNASSIGNED: All cases with congenital vertebral anomalies were identified in the Finnish Register of Congenital Malformations from 1997 to 2016 for this nationwide register-based case-control study. Five matched controls without vertebral malformations were randomly selected. Analyzed maternal risk factors included maternal age, body mass index, parity, smoking, history of miscarriages, chronic diseases, and prescription drug purchases in early pregnancy.
UNASSIGNED: The register search identified 256 cases with congenital vertebral malformations. After excluding 66 syndromic cases, 190 non-syndromic malformations (74 formation defects, 4 segmentation defects, and 112 mixed anomalies) were included in the study. Maternal smoking was a significant risk factor for formation defects (adjusted odds ratio 2.33, 95% confidence interval 1.21-4.47). Also, pregestational diabetes (adjusted odds ratio 8.53, 95% confidence interval 2.33-31.20) and rheumatoid arthritis (adjusted odds ratio 13.19, 95% confidence interval 1.31-132.95) were associated with mixed vertebral anomalies.
UNASSIGNED: Maternal pregestational diabetes and rheumatoid arthritis were associated with an increased risk of mixed vertebral anomalies. Maternal smoking increases the risk of formation defects and represents an avoidable risk factor for congenital scoliosis.
UNASSIGNED: III.

BACKGROUND: As one of the leading causes of child mortality, deaths due to congenital anomalies (CAs) have been a prominent obstacle to meet Sustainable Development Goal 3.2.
OBJECTIVE: We conducted this study to understand the death burden and trend of under-5 CA mortality (CAMR) in Zhejiang, one of the provinces with the best medical services and public health foundations in Eastern China.
METHODS: We used data retrieved from the under-5 mortality surveillance system in Zhejiang from 2012 to 2021. CAMR by sex, residence, and age group for each year was calculated and standardized according to 2020 National Population Census sex- and residence-specific live birth data in China. Poisson regression models were used to estimate the annual average change rate (AACR) of CAMR and to obtain the rate ratio between subgroups after adjusting for sex, residence, and age group when appropriate.
RESULTS: From 2012 to 2021, a total of 1753 children died from CAs, and the standardized CAMR declined from 121.2 to 62.6 per 100,000 live births with an AACR of -9% (95% CI -10.7% to -7.2%; P<.001). The declining trend was also observed in female and male children, urban and rural children, and neonates and older infants, and the AACRs were -9.7%, -8.5%, -8.5%, -9.2%, -12%, and -6.3%, respectively (all P<.001). However, no significant reduction was observed in children aged 1-4 years (P=.22). Generally, the CAMR rate ratios for male versus female children, rural versus urban children, older infants versus neonates, and older children versus neonates were 1.18 (95% CI 1.08-1.30; P<.001), 1.20 (95% CI 1.08-1.32; P=.001), 0.66 (95% CI 0.59-0.73; P<.001), and 0.20 (95% CI 0.17-0.24; P<.001), respectively. Among all broad CA groups, circulatory system malformations, mainly deaths caused by congenital heart diseases, accounted for 49.4% (866/1753) of deaths and ranked first across all years, although it declined yearly with an AACR of -9.8% (P<.001). Deaths due to chromosomal abnormalities tended to grow in recent years, although the AACR was not significant (P=.90).
CONCLUSIONS: CAMR reduced annually, with cardiovascular malformations ranking first across all years in Zhejiang, China. Future research and practices should focus more on the prevention, early detection, long-term management of CAs and comprehensive support for families with children with CAs to improve their survival chances.

The Spigelian hernia is a abdominal wall hernia that originates from a discontinuity of the Spigelian fascia located lateral to the rectus abdominis muscle. It can be acquired in adults or congenital in newborns. In very rare cases in male it can be associated with cryptorchidism, in which case it is known as \"Spigellian-Cryptorchidism Syndrome\". It can be clinically highlighted with abdominal swelling wall along the semilunar line and intestinal obstruction. The diagnosis, as in all pediatric emergencies, must be timely and the method of choice is ultrasound which allows a rapid localization of the hernia breach and herniated structures. The treatment of choice is surgical with herniopexy and repositioning of the testicle into the scrotal sac, or orchipessy in cases of testicular necrosis. We describe ultrasound characteristics of Spigellian-cryptorchidism syndrome presenting with acute intestinal obstruction in a newborn.

Congenital anomalies (CA) encompass all morphological or functional alterations originating prenatally and present at birth. The prenatal diagnosis of these anomalies can significantly impact the overall health of the pregnant individual and may influence her decision regarding the continuation of the pregnancy. In contexts where safe pregnancy termination is not guaranteed by the state, it can lead to unsafe procedures with severe consequences. In our research, we analyzed epidemiological information on CA to develop potential indicators of inequity in access to safe abortion prior to the legalization of legal termination of pregnancy in Argentina. We included cases from 13 public hospitals and 9 non-public subsector hospitals, from the period 2013-2020. Two groups of specific CA were selected: 1) CA capable of being prenatally diagnosed, and 2) CA related to vascular disruptive events. 10/18 of the selected CA capable of being prenatally diagnosed had a significantly higher prevalence in public hospitals (anencephaly, encephalocele, spina bifida, microcephaly, hydrocephalus, holoprosencephaly, hydranencephaly, diaphragmatic hernia, gastroschisis, bilateral renal agenesis). Non public hospitals had higher prenatal detection. Birth prevalence of CA related with vascular disruptive events (limb reduction, Moebius syndrome, amniotic band sequence) were significantly higher in public hospitals. These results suggest disparities in access to prenatal diagnosis and safe abortion based on socioeconomic status. There was a significant gap in access to prenatal diagnosis for CA and possibly to safe elective abortion depending on the type of institution (public vs. non-public).

Omphalocele, a congenital anomaly characterized by the protrusion of abdominal viscera through the umbilical ring, often presents challenges in surgical management, especially when concurrent with other anomalies such as intestinal atresia. We presented a case of a female infant weighing 2.6 kg born with omphalocele and concurrent ileal atresia. The child was successfully managed through prompt surgical intervention. Preoperative investigations revealed signs suggestive of intestinal obstruction, necessitating immediate surgical exploration. Intraoperatively, meticulous reduction of the omphalocele sac and resection of the atretic segment were performed. Postoperative care in the neonatal intensive care unit ensured optimal recovery. This case underscored the importance of timely intervention and multidisciplinary collaboration in managing complex congenital anomalies in neonates.