Congenital malformations

IMPORTANCE: Cancer is a leading cause of death among children worldwide. Treatments used for medically assisted reproduction (MAR) are suspected risk factors because of their potential for epigenetic disturbance and associated congenital malformations. OBJECTIVE: To assess the risk of cancer, overall and by cancer type, among children born after MAR compared with children conceived naturally. DESIGN, SETTING, AND PARTICIPANTS: For this cohort study, the French National Mother-Child Register (EPI-MERES) was searched for all live births that occurred in France between January 1, 2010, and December 31, 2021 (and followed up until June 30, 2022)...

BACKGROUND: Conjoined twins (CT), which used to be historically defined as "monstrous human" and previously so-called Siamese twins in the early eighteenth century, are one of the very rare congenital malformations with an uncertain etiology and complex yet remain inconclusively debatable regarding its pathophysiological mechanisms of fusion and fission theories. Among all types of CT, parasitic CT, especially the pygopagus sub-type, is exceedingly rarer. To the best of the authors' knowledge, no parasitic CT had been reported in Papua, and this is the first finding in South Papua...

BACKGROUND: Tracheal agenesis, or tracheal atresia, is a rare congenital anomaly. The presence of a tracheoesophageal fistula (TEF) can help with breathing for newborns with tracheal agenesis. In this article, we presented three unique cases and outcomes of neonates with tracheal agenesis along with a review of the literature. METHODS: This study consisted of a single center case series followed by a review of literature. Case reports were generated using both written and electronic medical records from a single hospital...

INTRODUCTION: Mirror hand is an extremely rare congenital abnormality characterized by polydactyly and duplication of the ulna, with the absence of the radius and thumb. Atypical presentations of mirror hand were described, including the presence of the radius in a few cases; here the authors report one of the atypical cases of mirror hand that underwent successful management. CASE PRESENTATION: A 2-year-old and 7-month-old female child presented with 7 well-developed digits, with an absent thumb; the X-ray imaging of the forearm showed a well-formed ulna and radius with proximal fusion...

The authors reviewed the literature, published between 2018 and 2023, on treating bipolar disorder in the perinatal period in order to summarize current treatment perspectives. Mood episodes occur during pregnancy and there are high rates of both initial onset and recurrence in the postpartum period. Bipolar disorder itself is associated with higher risks of adverse pregnancy outcomes, including gestational hypertension, hemorrhage, cesarean delivery, and small for gestational age infants. A general principle of perinatal treatment includes maintaining psychiatric stability of the pregnant person while reducing medication exposure risk to the fetus...

BACKGROUND: Congenital ileal atresia is a rare neonatal disease, the most common type of intestinal malformation in newborns, and one of the most common causes of congenital intestinal obstruction. It can cause various digestive system symptoms, including abdominal distension, vomiting, abnormal bowel movements, etc. In severe cases, it can be life-threatening. A prenatal ultrasound examination can assist clinical diagnosis of congenital ileal atresia, and those with a clear prenatal diagnosis should undergo surgical treatment after birth...

INTRODUCTION AND IMPORTANCE: Megadactyly of the foot is uncommon non hereditary congenital anomalies of the extremities and poses a dilemma on treatment however multiple treatment modalities were developed but is not uniform to all patients with megadactyly. The goal of the surgical treatment is to achieve painless and function of the foot. CASE PRESENTATION: We report a 14 years old male presented with complaints of progressive enlargement 2nd, 3rd, 4th and 5th toes of the right foot since birth, associated with inability to wear shoes...

BACKGROUND: A congenital constriction band (CCB) is a relatively common anomaly among limb malformations. However, the number of cases treated at a given center is limited and differences in techniques used by surgeons at each facility have a significant impact on the treatment outcomes. Several surgical methods have been reported, but a standard technique that yields consistent satisfactory results is still needed. Here, we introduce a novel technique for the treatment of CCB syndrome that uses a combination of wave-like skin incision and Z-axis Z-plasty...

Congenital anomalies in Sub-Sahara Africa (SSA) are understudied despite the significant pediatric health burden. This retrospective longitudinal hospital-based study evaluated the records of 326 inpatient children under the age of two years with congenital anomalies at Bugando Medical Centre, a tertiary referral hospital in northwestern Tanzania. Classical logistic regression was used in the analysis of congenital malformation of muscles, gastrointestinal malformation, oral facial clefts, neural tube defects, and skeletal malformations...

IMPORTANCE: Becoming a first-time parent is a major life-changing event and can be challenging regardless of the pregnancy outcome. However, little is known how different adverse pregnancy outcomes affect the father's risk of psychiatric treatment post partum. OBJECTIVE: To examine the associations of adverse pregnancy outcomes with first-time psychiatric treatment in first-time fathers. DESIGN, SETTING, AND PARTICIPANTS: This nationwide cohort study covered January 1, 2008, to December 31, 2017, with a 1-year follow-up completed December 31, 2018...

PURPOSE: This systematic review aimed to determine the effects of maternal exposure to bisphosphonates (BPs) during pregnancy on neonatal outcomes. It aimed to disclosfe the impact of BPs on neonates and identify aspects that require further investigation. METHODS: A comprehensive search of PubMed, Science Direct, LILACS, EMBASE, and Web of Science was conducted until August 2022, with no time restrictions. The selection criteria included studies published in English that evaluated pregnant women who were exposed to BPs...

Vein of Galen malformations (VGAMs) are rare and complex congenital brain vascular anomalies that pose significant diagnostic and treatment challenges. The natural history of this type of vascular anomaly is very poor, with many patients succumbing to complications such as congestive heart failure, hydrocephalus, and brain parenchymal injury. Although the clinical course of most VGAMs was considered unfortunate, with meticulous imaging, a group of lesions with a more placid presentation and course can be identified...

Hemangiomas are benign soft tissue tumors which are congenital and occur due to abnormal proliferations of blood vessels. Most common location of hemangiomas is subcutaneous adipose tissue, but skeletal muscle hemangiomas are very rare which make up to 0.8% of all hemangiomas. Usually, the intramuscular lesions are common in thigh region and calf muscles and are relatively rare in the facial muscles. Long-standing lesions results in phleboliths, and this may cause some symptoms. Conventional treatment of these isolated lesions may not yield satisfactory results...

BACKGROUND: The identification of the intersegmental plane (ISP) is a crucial step in segmentectomy for children with congenital pulmonary airway malformation (CPAM) due to complex anatomical variations. However, there is very limited literature available on this aspect specifically for infant. In this study, we compared the intravenous indocyanine green (ICG)-guided near-infrared fluorescence (NIRF) imaging method with the modified inflation-deflation method in terms of their perioperative characteristics and summarized our experience...

Congenital midline cervical cleft is a rare anomaly classified as a malformation of the branchial arches and represents less than 2% of congenital cervical malformations. Its clinical presentation involves cervical midline deformities: cephalic nodular lesion, linear groove with atrophic surface, and/or caudal sinus. Other midline alterations of variable complexity may also be present. Early treatment allows for avoiding long-term complications. Based on our experience in four clinical cases, a performed literature search on the topic in the last twenty years, and subsequent discussion of the employed surgical approaches, we included 150 reported cases in our review...

We analyzed the risk factors and outcomes of antenatally diagnosed congenital diaphragmatic hernia (CDH) from a tertiary-care children's hospital following in-utero transfer. A total of 41 antenatally detected cases of CDH were included; 30 were live-born and 11 were still-born. The primary outcome was postnatal survival. The secondary outcome was the probable factor affecting survival. No medical termination of the pregnancy was done. The mean gestational age at diagnosis was 23 weeks. The diagnostic accuracy of antenatal ultrasonography was 40/41 (97...

Quadricuspid aortic valve is a rare congenital cardiac anomaly with an incidence of 0.008% to 0.043%. Its clinical course varies depending on cusp anatomy, function, and associated cardiac malformations. It frequently progresses to aortic valve regurgitation that may require surgical valve replacement. Detection has shifted from incidental discovery during autopsies or cardiac surgeries in the early 20th century to various cardiac imaging methods in recent decades. In addition to contributing to the literature, this report supports the use of transesophageal echocardiography more liberally to detect aortic valve abnormalities...

<b/>The difficulty of cochlear implantation in patients with congenital microtia is usually increased due to the vague anatomical marks and facial nerve malformation. The common types of facial nerve malformation include facial nerve bony cover loss, aberrant position, and bifurcation malformation. Bifurcation malformation may obscure the oval window, press against stapes, and bifurcate in the vestibular window while obscuring the round window. It is important to correctly identify the facial nerve and choose a reasonable surgical approach to avoid postoperative complications...

OBJECTIVES: Surgery for congenital malformation of the hand is complex and protocols are not available. Simulation could help optimize results. The objective of the present study was to design, produce and assess a 3D-printed anatomical support, to improve success in rare and complex surgeries of the hand. MATERIAL AND METHODS: We acquired MRI imaging of the right hand of a 30 year-old subject, and analyzed and split the various skin layers for segmentation. We created the prototype of a healthy hand, using 3D multi-material and silicone printing devices, and drew up a printing protocol suitable for all patients...

INTRODUCTION: Cleft lip and/or palate (CL+/-P) is a congenital malformation affecting the lip and palate, requiring long-term treatment due to potential associated complications. For this reason, it is important for the patient to be continuously monitored and followed for health promotion and prevention, as well as improving the quality of life. The aim of this scoping review protocol is to identify and map the available evidence regarding the application of digital resources and technologies in the monitoring and follow-up of patients with CL+/-P...