Presence Of Other Malformations Research Articles

Prevalence and early surgical outcome of congenital diaphragmatic hernia in the Netherlands: a population-based cohort study from the European Pediatric Surgical Audit

BackgroundCongenital diaphragmatic hernia (CDH) is a rare birth defect with substantial mortality. This study aims to generate a population-based overview of CDH care and outcomes in the Netherlands. Moreover, it...

Situs inversus totalis in combination with hiatal hernia and hereditary hemolytic anemia in a 4-year-old child: A case report

Situs inversus totalis is an extremely rare anomaly in which the organs of the chest and abdominal cavity lie in the opposite direction. With complete transposition, clinical manifestations may be absent, and diagnostic and therapeutic problems may arise in the presence of other malformations or diseases.
 A 4-year-old girl was admitted for treatment in the hematology department of the National Medical Center of the Republic of Tajikistan, with complaints of nausea, periodic vomiting, lethargy, lack of appetite, malaise, and skin pallor. Owing to the ineffectiveness of conservative therapy, surgical treatment was recommended, i.e., splenectomy. During the preoperative examination, radiography and radiopaque examination of the organs of the gastrointestinal tract with barium sulfate revealed that the fundus and body of the stomach were located in the left half of the chest, and the heart was symmetrically deployed to the right. An ultrasound examination revealed signs of displacement of the liver to the left half of the abdomen, the spleen to the right, and the heart in the right half of the chest. The diagnosis was hiatal hernia on the left, situs inversus totalis, hereditary hemolytic anemia, fermentopathy, and G-6-PD deficiency. Laparoscopic surgery was performed, which included splenectomy, elimination of a hiatal hernia, chiatoplasty, and esophagogastrofundoplication with the creation of a Nissen cuff. The girl was discharged on day 10. On control examination after 6 and 12 months, she had no complaints and has grown and developed according to age.
 This clinical case is the first in the Russian literature to describe the treatment of a child with a hiatal hernia against the background of complete transposition of internal organs. This case highlights the need for imaging techniques for any unclear symptoms, especially in children with hereditary diseases. Minimally invasive intervention could contribute to a favorable outcome.

Mortality in neonates with giant omphalocele subjected to a surgical technique in Barranquilla, Colombia from 1994 to 2019

No studies of the efficacy and safety of surgical techniques for the primary closure of giant omphalocele have been performed in Colombia. To determine the mortality rate and factors associated with mortality in neonates with giant omphalocele subjected to the surgical technique of early closure with a surgical silo described by Abello in Barranquilla, Colombia from 1994 to 2019. Retrospective cohort study of 30 neonates diagnosed with giant omphalocele and subjected to early closure of the defect. Medical history data were collected, information bias was controlled for, and descriptive statistical analysis was performed using Fisher’s exact test and the Mann–Whitney U test in SPSS 25.0. Of the patients in the cohort, 36.7% presented technique-related complications, 56.7% developed sepsis, 23.3% had low birth weight, 26.7% were preterm births, 43.3% had other malformations, 26.7% had congenital heart defects, and 13.3% presented pulmonary hypertension. The mean hospital stay was 26 days. The mortality rate was 16.7%; it was significantly higher among patients with other malformations, congenital heart defects, pentalogy of Cantrell and pulmonary hypertension. The Abello technique for the treatment of giant omphalocele showed a high neonatal survival rate and a low rate of procedure-related complications. The main factors associated with the death of neonatal patients were the presence of other malformations, congenital heart defect, pentalogy of Cantrell and pulmonary hypertension.

Craneosinostosis, una perspectiva pediátrica

La craneosinostosis se define como el cierre prematuro de una o más suturas del cráneo, que se manifiesta por una forma anormal de la cabeza. Es una condición infrecuente, pero requiere ser reconocida y derivada oportunamente a Neurocirugía para prevenir complicaciones. El objetivo de esta revisión es describir las características clínicas y genéticas más frecuentes de esta patología, su clasificación de acuerdo a la forma del cráneo y los signos más característicos para lograr reconocerla oportunamente. Se realizó una búsqueda de artículos científicos en bases de datos Pubmed, Scielo y EMBASE con las palabras craneosinostosis, plagio, escafo y braquicefalia. Se seleccionaron artículos en español e inglés que describieran las características de la patología y su manejo, optando por revisiones sistemáticas o recomendaciones de sociedades científicas cuando estuvieran disponibles. La craneosinostosis puede presentarse en forma aislada o asociada a otras deformidades. Su clasificación depende de la(s) sutura(s) afectada(s), lo que lleva a la forma característica del cráneo y de la presencia de otras malformaciones. Suele diagnosticarse y derivarse de forma tardía, lo que se asocia a complicaciones como hipertensión endocraneana y alteración del desarrollo encefálico. La cirugía precoz tiene menor comorbilidad y mejores resultados estético. En conclusión, la forma anormal delcráneo debe hacer sospechar la presencia de craneosinostosis, aunque se presente en forma aislada. El manejo quirúrgico antes del año de vida se asocia a mejor pronóstico.

Craniosynostosis, a pediatric perspective

Craniosynostosis is defined as the premature fusion of one or more skull sutures, characterized by an abnormal shape of the head. It is a rare condition but should be recognized and timely referred to Neurosurgery in order to prevent complications. The objective of this review is to describe the most frequent clinical and genetic characteristics of this pathology, its classification according to the shape of the skull, and the most characteristic signs to achieve timely recognition. A search for scientific articles in Pubmed, Scielo, and EMBASE databases was performed using the terms craniosynostosis, plagiocephaly, scaphocephaly, and brachycephaly. We selected articles in Spanish and English that described the characteristics of the pathology and about its management, choosing systematic reviews or recommendations from scientific societies when available. Craniosynostosis may occur in isola tion or associated with other deformities. Its classification depends on the affected suture(s), leading to the characteristic shape of the skull and the presence of other malformations. This condition is usually diagnosed and referred late, which is associated with complications such as intracranial hy pertension and impaired brain development. Early surgery has less comorbidity and better esthetic results. In conclusion, the abnormal shape of the skull must raise the suspicion of craniosynostosis, even if it occurs in isolation. Surgical management before one year of life is associated with a better prognosis.

Fetal Right Aortic Arch: A Quantitative Method of Outcome Prediction

Objective: To investigate right aortic arches (RAA) quantitatively and risk-stratify fetuses with RAA prenatally.Method: A total of 143 singleton fetuses were enrolled. Four measurements were studied, including the angle and distance between the aortic arch (AO) and ductal arch (DA), the diameters of the AO and DA, and the distance growth rate (DGR).Result: A significant increase in mean distance was observed in the study group (4.89 ± 1.07 mm) compared to the control group (1.62 ± 0.33 mm, p<.01). The distance increased from the second (1.52 ± 0.35 mm, p<.01, 4.06 ± 0.78 mm, p<.01) to third trimester (1.71 ± 0.29 mm, p<.01, 5.13 ± 1.10 mm, p<.01) in the normal and study groups. Fetuses with abnormalities in addition to RAAs had significantly lower growth rates (12.4 ± 5.2%) than those with an isolated RAA (33.7 ± 12.0%).Conclusion: Parameters, especially DGR, may be clinically significant. DGR may be restricted when an RAA exists with other malformations. Decreasing DGR in fetuses with RAAs suggests the presence of other malformations.

A review: Percutaneous pulmonary artery stenosis therapy: state-of-the-art and look to the future.

Stenosis, or narrowing, of the branches of the pulmonary artery is a type of CHD that, if left untreated, may lead to significant complications. Ideally, interventions to treat stenosis occur before significant complications or long-term sequelae take place, often within the first 2 years of life. Treatment depends on specifics of the condition, the presence of other malformations, and age of the child. Research and recent innovation to address these shortcomings have provided physicians with safer and more effective methods of treatment. This has further continued to push the ceiling of pulmonary arterial stenosis treatment available for patients. Despite continuous advancement in angioplasty - such as conventional and cutting balloon - and stenting, each treatment method is not without its unique limitations. New technological developments such as bioresorbable stents can accommodate patient growth and pulmonary artery stenosis treatment. As more than a decade has passed since the review by Bergersen and Lock, this article aims to provide a contemporary summary and investigation into the effectiveness of various therapeutic tools currently available, such as bare metal stents and potential innovations including bioresorbable stents.

Psychosocial outcomes in adult men born with hypospadias: A register-based study.

In this nationwide matched cohort study, we have investigated whether being born with hypospadias affect subsequent psychosocial outcomes in adulthood. We analyzed prospectively collected data from national Swedish registers. Data on the diagnoses were collected from the National Patient Register and the Medical Birth Register. Data on psychosocial outcomes such as educational and income level, marital status and disability pension were collected from Statistics Sweden. The effects of covariates, such as age, county of birth, presence of other malformations and psychiatric illness, were taken into account. The associations between hypospadias and psychosocial outcomes were calculated using conditional logistic regression and expressed as odds ratios (OR) and 95% confidence intervals (CI). We included 4378 men diagnosed with hypospadias, born between 1969 and 1993 in Sweden. Patients with hypospadias were matched with unaffected men by year of birth and birth county. We did not detect any differences in educational or income level. The probability of entering marriage (OR 1.02, 95% CI 0.90–1.14) did not differ, regardless of phenotype. We did, however, detect a 40% increased probability of receiving a disability pension, (OR 1.39, 95% CI 1.20–1.61). In conclusion, men born with hypospadias in Sweden do not differ from unaffected men with respect to the majority of psychosocial outcomes studied. They are, however, at increased risk of receiving a disability pension, which motivates further investigations.

Postnatal development of fetuses with a single umbilical artery: differences between malformed and non-malformed infants

The presence of a single umbilical artery (SUA) is a fetal soft marker of congenital abnormalities. Among the most common related malformations, there are cardiological, nephrourological and digestive anomalies, most of which are considered to have a vascular etiology. There is an association between increased incidence of intrauterine growth retardation and adverse perinatal indicators, but whether this association is due to related anomalies or isolated SUA (iSUA) is controvisal. We reviewed 96 cases of iSUA and non-isolated SUA (niSUA), diagnosed in a period of two years in a referral hospital for high-risk pregnancies. Data on prenatal explorations, including fetal ultrasonography and karyotyping, were obtained. niSUA was diagnosed when no malformations were found prenatally or in postnatal evaluation. Sixty-six newborns (68.8%) had no other anomalies and 30 (31.3%) presented with a variety of malformations including heart diseases, urophaties, digestive, nervous and musculoskeletal disorders, genetic abnormalities and complex malformations. Cardiological and nephrourological abnormalities were found to be the most frequent association with a SUA (both in 23.8% of malformed SUA newborns). Intrauterine growth restriction was not higher in iSUA newborns than in a normal population. Ultrasound allowed optimal prenatal diagnosis in most cases. The prognosis of the fetus with a SUA is determined by the presence of other malformations observed by an expert sonographer. If no other findings are made, only a routine physical examination should be performed in newborns, but no other complementary examinations are required.

Severe hypospadias and its association with maternal‐placental factors

The neonate born small for gestational age (SGA, birth weight <10th centile) with severe hypospadias, and without the presence of other malformations, is a presentation which clinical geneticists are asked to assess. However, this combination is not well addressed in the literature. Epidemiological studies point to an increased incidence and severity of hypospadias in SGA infants, but leave open the possibility that the association is attributable to the population subset who have multiple congenital abnormalities or genetic syndromes. Epidemiological studies unselected for birth weight have also identified an association between hypospadias with some risk factors tied to SGA, including prematurity, preeclampsia, and placental insufficiency. This study was developed after being involved in the care of several boys with SGA and severe hypospadias who were premature, with gestational histories of maternal hypertension and oligohydramnios. No underlying syndromes, hormonal abnormalities, or contributory family histories could be found. We hypothesized that severe hypospadias may in some cases be causally related to maternal-placental factors rather than primary fetal abnormalities. A retrospective study of a cohort of singletons born SGA with unexplained hypospadias was conducted. We compared their gestational histories and hypospadias severities with those born at normal birth weights. The cohort with SGA had an increased ratio of severe to mild hypospadias. Further, within the cohort of SGA boys, there was a higher prevalence of prematurity, maternal hypertension, and oligohydramnios among those with severe vs mild hypospadias. Small sample sizes are limiting.

Morphometric features of the craniocervical junction region in dogs with suspected Chiari-like malformation determined by combined use of magnetic resonance imaging and computed tomography

To objectively describe morphometric features of the craniocervical junction region of Cavalier King Charles Spaniels (CKCSs) and non-CKCS dogs with suspected Chiari-like malformation (CLM) and identify associations between these features and the presence of other malformations in this region. 216 CKCSs and 58 non-CKCS dogs. Magnetic resonance and computed tomographic images of the head and craniocervical junction region of patients evaluated because of suspected CLM were assessed for cerebellar compression (CC), ventral spinal cord compression at the C1-C2 articulation (medullary kinking), and dorsal spinal cord compression at the C1-C2 articulation (dorsal compression). A compression index was calculated for each of these 3 locations in each dog. Multiple logistic regression analysis was performed to determine whether breed (CKCS vs non-CKCS) and compression index values were associated with the presence of other craniocervical junction abnormalities. All 274 dogs had CC; medullary kinking was identified in 187 (68.2%) and dorsal compression was identified in 104 (38.0%). Atlantooccipital overlapping (AOO) was identified in 76 (27.7%) dogs. Breed of dog (CKCS vs non-CKCS) and value of CC index were the only significant predictors of AOO. The CKCSs had an almost 5-fold decrease in risk of AOO, compared with the non-CKCS dogs, and the risk of AOO nearly doubled for every 10% increase in CC index. The anatomic abnormality responsible for CC was AOO in a substantial percentage of dogs suspected to have CLM. The CC index value may be used to help differentiate subtypes of craniocervical junction abnormalities in dogs.

Prevalence of congenital heart defects in carriers of Down syndrome in the municipality of Pelotas, Brazil

To determine the prevalence of congenital heart defects in patients with Down syndrome in the municipality of Pelotas, Brazil, describing the most frequent types and assessing the associated factors. Cross-sectional study including children with Down syndrome who were born and lived in Pelotas from January 2000 to December 2005. Data were collected by means of home interviews with mothers or guardians. Univariate and bivariate analyses were carried out to analyze the factors related to congenital heart defect. Forty-seven mothers of patients with Down syndrome were interviewed. Twenty-two (46.8%) of the patients had a diagnosis of congenital heart defect. Of them, 28% had early cardiac evaluation before 3 months of life. The most frequent heart defect was interatrial communication (17%); atrioventricular septal defect affected five patients. Bivariate analysis between the outcome congenital heart defect and the predicting factors maternal age, paternal age, parents' and child's skin color, presence of other malformations and child's sex showed that the associations were not statistically significant. The prevalence of Down syndrome and congenital heart defects in our region is similar to the rates found by other authors; therefore, we highlight the importance of diagnostic suspicion and early referral by pediatricians to cardiac evaluation. Another relevant aspect is the small number of patients who underwent karyotype testing. In addition, the number of associated malformations was lower than that found by other authors.

Severe Fetal Hydrocephalus With and Without Neural Tube Defect: A Comparative Study

This study is an attempt to compare perinatal and 1-year outcomes in 2 groups of infants who received a prenatal ultrasonographic diagnosis of severe hydrocephalus: 28 (group 1) with a neural tube defect (NTD) and 32 (group 2) without a NTD. Participants resided in Brazil, where pregnancy termination is illegal. Severe hydrocephalus was diagnosed when the lateral ventricular atrial diameter was 15 mm or more in at least one hemisphere. Sonography was repeated every 2 weeks on average, and fetal echocardiography was done after 18 weeks' gestation. The 2 groups were similar at birth with regard to maternal age, number of pregnancies, number of abortions, gestational age when hydrocephalus was diagnosed, and baseline lateral ventricular atrial diameter. Mortality, including intrauterine deaths and deaths of infants having malformations incompatible with life, was 36% in group 1 and 59% in group 2. Cardiac malformations were more frequent in group 2 infants. The hospital stay after birth was significantly higher in group 1 infants having a NTD, and significantly more group 1 infants required surgical interventions. Rates of procedure-related complications did not differ significantly in the 2 groups. The commonest complications in group 1 infants were surgical wound dehiscence or necrosis, ventriculitis, and shunt obstruction. Of 6 group 2 infants with procedure-associated complications, half had ventriculitis. Although morbidity was greater in infants with a NTD, possibly because more surgical procedures involving the central nervous system were needed, mortality was higher in infants without a NTD. This might reflect the presence of other malformations, particularly congenital heart disease.

Tracheostomy tubes are not needed for Duchenne muscular dystrophy

The necropsy reports of 294 cases of anencephaly and 50 cases of iniencephaly have been examined, and a tubulated list of associated malformations produced. Cases were divided by sex and the presence or absence of spina bifida. Forty-one per cent of the series had other malformations, and other malformations were more common in those cases with spina bifida than in those without. The most frequent single malformations were: hydronephrosis (8%), cleft palate (8%), diaphragmatic hernia (5%), exomphalos (5%), hare lip (4%), and horseshoe kidney (4%). It is suggested that the presence of other malformations in anencephaly or iniencephaly may imply some aetiological heterogeneity.

Malformations of the cranium, vertebral column, and related central nervous system: morphologic heterogeneity may indicate biological diversity.

We conducted an autopsy study of neural tube defects (NTDs) to determine whether there is a relation between the localization of the lesion and the sex of the fetus or infant, and the presence of other malformations. Included were 97 autopsies of infants/fetuses with anencephaly or spina bifida at any level and weighing more than 500 gm. The topographical divisions studied were: 1) isolated cranial lesions, 2) superior spina bifida with or without occipital lesion, and 3) isolated lower spina bifida. In group 1 (46 cases) there were lesions of the vertebral column, mainly cervical, and other anomalies of the "schisis" type. Group 2 (24 cases) showed more extensive involvement of the vertebral column and more cases with multiple anomalies (p = 0.001) of a varied spectrum, not only the schisis type; in group 3 (27 cases) the cases involved a few other malformations. In group 2 there was no sex preference (females 46%), but the other, more localized lesions (groups 1 and 3) were found predominantly in females (71%). Localized lesions, whether involving the cranium or lumbar spine, are formed by a mechanism that favors the female gender, whereas upper spina bifida, which is usually accompanied by cranial involvement, results from another mechanism (possibly vascular disruption) and is frequently accompanied by other malformations.

Congenital diaphragmatic hernia: the perinatalogist's perspective.

1. Louis P. Halamek, MD* 2. Yasser Y. El-Sayed, MD† 1. 2. *Division of Neonatal and Developmental Medicine, Department of Pediatrics. 3. 4. †Division of Maternal-Fetal Medicine, Department of Gynecology and Obstetrics, Stanford University School of Medicine, Palo Alto, CA. After completing this article, readers should be able to: 1. Describe the incidence of congenital diaphragmatic hernia (CDH). 2. Delineate what percent of all CDHs occur on the left hemithorax and what percent are associated with the presence of other malformations. 3. Describe the mortality rate for prenatally diagnosed CDH and what factors affect the presence of associated malformations and chromosomal defects and are the major determinants of mortality. 4. Describe optimal prenatal counseling for a woman carrying a fetus who has CDH. The incidence of congenital diaphragmatic hernia (CDH) is reported to be approximately 1 in 2,000 to 4,000 births. It is believed to result from incomplete fusion of the pleuroperitoneal membrane and passage of abdominal contents into the chest. The small bowel, stomach, spleen, and colon are the most frequently herniated organs, although pancreas, liver, adrenal glands, and kidneys also have been found. Approximately 90% of all CDHs occur on the left hemithorax, and up to 50% of cases are associated with the presence of other malformations. CDH may be one component of recognized multiple malformation complexes, including chromosomal disorders (trisomy 13, trisomy 18, trisomy 21, tetraploidy, Pallister Killian syndrome [tetrasomy 12 p mosaicism], and Turner syndrome), single gene disorders (Fryn syndrome), and others for which the genetic etiology is uncertain (laterality sequence). Abnormalities in numerous organs other than the lungs have been described, including the heart, kidneys, gastrointestinal tract, abdominal wall, and central nervous system. In addition to more common forms of congenital heart disease, such as tetralogy of Fallot and truncus arteriosus, diminished left ventricular mass has been noted in a number of patients who have left-sided CDH and may have an impact on mortality. The prognosis of CDH is poor, especially for infants in whom the diagnosis is made in utero. The especially poor prognosis for infants diagnosed in …

Associated malformations in infants and fetuses with upper or lower neural tube defects

The paper describes associated malformations in infants born with neural tube defects (N = 3,809) from three large malformation registers and in fetuses aborted because of a diagnosed neural tube defect (N = 748) from two of the registers. In infants, upper spina bifida and encephalocele are more often associated with non-neural malformations than anencephaly or lower spina bifida. Aborted fetuses with spina bifida or encephalocele have associated malformations registered more often than infants with those neural tube defects, but the opposite is true for anencephaly. The degree of detail of the investigation of an aborted specimen or a perinatally dead infant will contribute to such differences but they can also depend on the fact that prenatal detection may be facilitated by the simultaneous presence of other malformations like body wall defects. Also, fetuses with many malformations may be more prone to abort spontaneously late in pregnancy. Variable prenatal diagnosis may, therefore, explain population differences in the pattern of associated malformations. The type of associated malformation differs with the level of the neural tube defect: this could be due to different causal mechanisms or be a question of cranio-caudal level and/or timing. For limb reduction defects, however, we did not find any association between upper limb and upper neural tube defects or lower limb and lower neural tube defects. These findings together with other epidemiological data support the idea that upper and lower neural tube defects may have different significance in epidemiological studies and should be treated separately. Teratology 57:56–63, 1998. © 1998 Wiley-Liss, Inc.

Associated malformations in infants and fetuses with upper or lower neural tube defects.

The paper describes associated malformations in infants born with neural tube defects (N = 3,809) from three large malformation registers and in fetuses aborted because of a diagnosed neural tube defect (N = 748) from two of the registers. In infants, upper spina bifida and encephalocele are more often associated with non-neural malformations than anencephaly or lower spina bifida. Aborted fetuses with spina bifida or encephalocele have associated malformations registered more often than infants with those neural tube defects, but the opposite is true for anencephaly. The degree of detail of the investigation of an aborted specimen or a perinatally dead infant will contribute to such differences but they can also depend on the fact that prenatal detection may be facilitated by the simultaneous presence of other malformations like body wall defects. Also, fetuses with many malformations may be more prone to abort spontaneously late in pregnancy. Variable prenatal diagnosis may, therefore, explain population differences in the pattern of associated malformations. The type of associated malformation differs with the level of the neural tube defect: this could be due to different causal mechanisms or be a question of cranio-caudal level and/or timing. For limb reduction defects, however, we did not find any association between upper limb and upper neural tube defects or lower limb and lower neural tube defects. These findings together with other epidemiological data support the idea that upper and lower neural tube defects may have different significance in epidemiological studies and should be treated separately.

Genetic-epidemiologic study of omphalocele and gastroschisis: evidence for heterogeneity.

On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, omphalocele (OM) and gastroschisis (GA) are considered casually and pathogenetically distinct abdominal wall defects. More than 50% of infants with OM have additional defects, but only about 15% of those with GA do. To evaluate whether there is heterogeneity between isolated and multiply affected cases of OM and GA, we analyzed epidemiologic characteristics and familial risks of major defects for 82 OM and 81 GA cases drawn from a population-based study in the Maryland-Washington, DC-Northern Virginia area and born from 1980 through June 1987. We examined year of birth, sex, race, and maternal age distributions after stratifying the infants into isolated and multiple defect groups. We found significant differences in maternal age between cases with isolated OM and GA, but not between cases with GA or OM who had other defects. Using regressive logistic models, we analyzed familial aggregation of birth defects among relatives of infants with OM and GA. An autosomal recessive model of inheritance was found to be the most parsimonious explanation for the families of infants with isolated OM or GA. However, for families of infants with multiple defects, a sporadic or nongenetic model fit best. These findings are not only useful for estimating familial risk of major birth defects, but they also suggest further heterogeneity of infants with OM and GA according to the presence of other malformations.

Congenital malformations associated with anencephaly and iniencephaly.

The necropsy reports of 294 cases of anencephaly and 50 cases of iniencephaly have been examined, and a tubulated list of associated malformations produced. Cases were divided by sex and the presence or absence of spina bifida. Forty-one per cent of the series had other malformations, and other malformations were more common in those cases with spina bifida than in those without. The most frequent single malformations were: hydronephrosis (8%), cleft palate (8%), diaphragmatic hernia (5%), exomphalos (5%), hare lip (4%), and horseshoe kidney (4%). It is suggested that the presence of other malformations in anencephaly or iniencephaly may imply some aetiological heterogeneity.