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Digestive tract malformations requiring surgical repair in association with esophageal atresia are rare occurrences. Because of this uncommon presentation of esophageal atresia, its evaluation and management are often difficult, requiring extensive workup and multiple surgical procedures. We present our experience with esophageal atresia associating gastrointestinal congenital anomalies in the last 10 years. Clinical and surgical perspectives were pointed willing to make relevant observations in matters of diagnosis and treatment strategy in these patients. Therefore, 7 cases resembling this pattern were identified – duodenal atresia and anorectal malformation being the most common coexistent malformations. All the cases exhibited technical and procedural staging difficulties that we shaped according to the patient’s general picture in the absence of a standardized approach. Careful preoperative follow-up, multidisciplinary communication, watchful waiting and an individually patient-shaped approach are elementary requirements for good outcomes in complex cases of EA.

Objective: to conduct a comparative analysis of the structure, number, and antenatal diagnosis of fetal malformations in two clinical groups. Materials and methods: a retrospective comparative analysis of the variations, frequency, and detectability of malformations and developmental abnormalities in newborns born in two groups was conducted for the periods from 2010 to 2012 (the first group) and from 2017 to 2019 (the second group). The study of these materials was conducted on the basis of the maternity department of the city hospital of Rostov-on-Don. Statistical processing of the obtained results was carried out using the programs Statistica 10 and Microsoft Excel 2013. Results: in the second group, the number of children with genital abnormalities increased. The number of children with skin abnormalities increased as well as the number of children with gastrointestinal malformations. There is a decrease in the number of abnormalities in the development of the musculoskeletal system and the circulatory system. The rate of cleavage of the lip and hard palate decreased. However, malformations of the fetus were not detected in all cases, although their detectability increased from 4.41% in 2010 – 2012 to 22.62% in 2017 – 2019, i.e. by 5.13 times. Conclusion. The search for modern, reliable, and non-invasive methods for diagnosing fetal malformations in early pregnancy is an important stage in the study of this issue. It is also important to train high-class ultrasound specialists as well as search for new biochemical markers of congenital genetic disorders.

AimChildren with congenital gastrointestinal malformations may be at risk of neurodevelopmental impairment due to challenges to the developing brain, including perioperative haemodynamic changes, exposure to anaesthetics and postoperative inflammatory influences. This study aggregates existing evidence on neurodevelopmental outcome in these patients using meta-analysis.MethodPubMed, Embase and Web of Science were searched for peer-reviewed articles published until October 2019. Out of the 5316 unique articles that were identified, 47 studies met the inclusion criteria and were included. Standardised mean differences (Cohen’s d) between cognitive, motor and language outcome of patients with congenital gastrointestinal malformations and normative data (39 studies) or the studies’ control group (8 studies) were aggregated across studies using random-effects meta-analysis. The value of (clinical) moderators was studied using meta-regression and diagnostic subgroups were compared.ResultsThe 47 included studies encompassed 62 cohorts, representing 2312 patients. Children with congenital gastrointestinal malformations had small-sized cognitive impairment (d=−0.435, pInterpretationThis study shows that children with congenital gastrointestinal malformations exhibit impairments in neurodevelopmental outcome, highlighting the need for routine screening of neurodevelopment during follow-up.

Introduction and importance The concurrent existence of Omphalocele and Meckel's diverticulum is not unheard of but is relatively uncommon. A few cases of their coexistence have been reported. Due to the uncommon dual presentation, it is easy to delay or even miss the diagnosis, delaying management. Meckel's diverticulum should be considered if there is a bowel opening on an omphalocele. Case presentation Herein we present a newborn male baby who was referred to us presenting with an omphalocele that was leaking faeces. The baby also had a cleft lip and palate. He was born at term to a 30-year-old mother whose pregnancy was otherwise normal. The fistulated omphalocele was surgically repaired, and the child continued to do well. Clinical discussion Omphalocele and Meckel's diverticulum are both relatively rare congenital malformations that are uncommonly present together. Other congenital malformations can be associated; hence thorough investigations should be carried out when resources are available. The search for associated malformation should not delay the management of the pathology as it can have serious consequences on the health and outcome of the child. Conclusion Fistulation of Meckel's diverticulum on an Omphalocele is rare. Treatment involves surgical resection and repair. Though other co-morbidities should be investigated, investigation for cause and other co-morbidities should not delay surgery., Highlights • Omphalocele and Meckel's diverticulum rarely occur concurrently. • Surgery is the mainstay of management of both malformations. • Co-morbidities need to be addressed but not necessarily in the same sitting.

Introduction and importance Edward's syndrome (ES) occurs as a result of trisomy of chromosome 18 and is associated with multisystem congenital anomalies. The association of ES with various gastrointestinal malformations but Hirschsprung disease (HD) is well documented. Case presentation A female infant on her 5th day of life presented with episodes of bilious vomiting along with abdominal distension and no passage of stool. The child had a small head and prominent occiput, low set abnormal ears, small jaw, upturned nose, widely spaced eyes, small neck with widely spaced nipples, clenched hands with overlapping fingers, flexed big toe, and prominent heels. Clinical discussion Edward syndrome is associated with multisystem congenital abnormalities of which gastrointestinal abnormalities make up the most part. The condition can be identified by fetal ultrasound screening. Surgical correction of associated congenital anomalies at different times along with lifelong supportive management is important. Conclusions Edward syndrome can present as Hirschsprung disease as a part of associated gastrointestinal Malformation. Often, early identification and termination of the pregnancy in antenatal life can reduce the suffering. Surgical correction of associated anomalies along with supportive care forms the cornerstone of management. However, the prognosis remains poor., Highlights • Association of Edward syndrome (Trisomy 18) with Hirschsprung disease is still not clear. • Although prognosis is poor, surgical correction of associated anomalies along with supportive care is the crucial in management.

Hirschsprung disease (HD), duodenal atresia, and annular pancreas are rare congenital gastrointestinal malformations. Although 18% of HD cases are associated with other malformations, little evidence exists of concurrent HD and duodenal atresia or HD and annular pancreas. We present three cases of infants who had evidence of duodenal obstruction on prenatal imaging. Postnatally, all three had obstructive symptoms or constipation, even after duodeno-duodenostomy was performed. They were eventually found to have HD, which was successfully treated through surgical intervention. Although the diagnosis of these conditions can be challenging given similarities in their clinical presentations, proper diagnosis and surgical management is feasible and can significantly reduce morbidity and mortality for the infant.

Background Gastrointestinal atresias and urological defects are main causes of pediatric surgery in infants. As copy number variants (CNVs) have been shown to be involved in the development of congenital malformations, the aim of our study was to investigate the presence of CNVs in patients with gastrointestinal and urological malformations as well as the possibility of tissue‐specific mosaicism for CNVs in the cohort. Methods We have collected tissue and/or blood samples from 25 patients with anorectal malformations, esophageal atresia, or hydronephrosis, and screened for pathogenic CNVs using array comparative genomic hybridization (array‐CGH). Results We detected pathogenic aberrations in 2/25 patients (8%) and report a novel possible susceptibility region for esophageal atresia on 15q26.3. CNV analysis in different tissues from the same patients did not reveal evidence of tissue‐specific mosaicism. Conclusion Our study shows that it is important to perform clinical genetic investigations, including CNV analysis, in patients with congenital gastrointestinal malformations since this leads to improved information to families as well as an increased understanding of the pathogenesis., We detected pathogenic aberrations in 2/25 patients with gastrointestinal and urological malformation and report a novel possible susceptibility region for esophageal atresia on 15q26.3. CNV analysis in different tissues from the same patients did not reveal evidence of tissue‐specific mosaicism.

Background: Transcutaneous bilirubinometry, in keeping with rapid technological advances, has come a long way as an effective tool for assessing bilirubin levels in newborns. Though the early devices showed changes due to melanin concentration, the new generation devices were based on micro-spectrometry. Color coded scales were rarely used for the comparison. Hence the primary outcome is that TcBI is more reliable in lighter skin color babies than darker skin color babies.Objective: To study the reliability of TcB in different skin color babies. Materials and Methods: The study was conducted in a tertiary newborn center from November 2014 to June 2016. The inclusion criteria included all babies above 34 weeks gestation and exclusion criteria included babies with established direct hyperbilirubinemia, neonatal septicemia, major congenital/ gastrointestinal malformations and those on phototherapy. 396 babies were recruited. At 24 hours, babies were categorized based on Fitzpatrick skin color chart. Statistical analysis was done using the ROC curves Bland Altman charts. Results: Mean TcB was found to be uniformly higher than TSB for all variables like sex, birth weight, gestational age and growth of the baby with an excellent correlation (r = 0.698-0.932). 335 babies (74.4%) were falling in the color code 3. 113 babies (25.1%) were in the color code 4 and 2 babies (0.4%) were in the color code 5. TcB correlates better in light skin tone babies (color code 3) than dark skin tone babies (color code 4) with r= 0.874 and r= 0.856 respectively. Conclusion: Though TcB overestimates; it correlates well with TSB in lighter skin tone babies than babies with darker skin tone.

Objective: To study the validity of transcutaneous bilirubin (TCB) at different time points between 24 and 96 h of life. Materials and Methods: The study was conducted in a tertiary newborn center from November 2014 to June 2016. We have included all babies above 34 weeks of gestation while babies with established direct hyperbilirubinemia, neonatal septicemia, major congenital/gastrointestinal malformations and those on phototherapy were excluded from the study. After taking into consideration the inclusion and exclusion criteria, 396 babies were recruited. The correlation was analyzed using the ROC curves, and r values and plots of agreement were done using Bland Altman charts. Results: A total of 662 paired TCB and serum bilirubin readings were performed in 396 healthy neonates, at designated time points between 24 and 96 h of life. Mean TCB was found to be uniformly higher than total serum bilirubin (TSB) for all variables such as sex, birth weight, gestational age, and growth of the baby with an excellent correlation (r=0.698-0.932). The correlation between TCB and serum bilirubin improved as age increased with maximum correlation at 96 h (r=0.981). Test of agreement showed that at 24 h the TCB overestimated serum bilirubin by 1.5±0.7 mg/dl which decreased to 0.8±0.6 mg/dl by 96 h. Conclusion: TCB and TSB correlated significantly between 24 and 96 h of age. However, there is overestimation by TCB initially which decreases at 96 h.

Objective To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening.Study design We included 129 patients with CARM born between 2004 and 2013, and referred to University Medical Center Groningen. Recto-perineal and recto-vestibular fistulas were classified as mild CARMs, all others as severe. Significant patent foramen ovale, secundum atrial septal defect, and small ventricular septum defect were classified as minor CHDs, all others as major.Results Of 129 patients with CARM, 67% had mild CARM, 33% severe CARM, and 17% were additionally diagnosed with CHD. CHDs were distributed equally in patients with mild or severe CARMs. Patients with multiple congenital abnormalities were more frequently diagnosed with CHD (n = 16, 36%) than patients without multiple congenital malformations (n = 5, 9%, P = .001). Patients with CARM diagnosed with CHD using pediatric cardiac echo screening were younger than 3 months of age at diagnosis. Earlier general pediatric examinations missed 7 (50%) children with mild and 4 (50%) with severe CHDs.Conclusions The severity of CARM could predict neither prevalence nor severity of CHD. More than one-half of CHDs were missed during the first physical examination. No new CHDs were found in patients older than 3 months of age at the time CARMs were diagnosed. We recommend screening all patients with CARM younger than 3 months of age for CHD at the time CARM is diagnosed. Preoperative echocardiography should be the rule in children younger than 3 months of age and with multiple congenital anomalies.

Meckel's diverticula are common congenital gastrointestinal malformations that most often present with bloody stool or bowel obstruction. Occasionally these diverticula may become inverted and serve as a lead point for the development of intussusception. Herein, we report the case of a 10-year old female presenting with abdominal pain and non-bloody, non-bilious emesis and suspicion of intussusception. Upon performing an exploratory laparotomy, the intussusception lead point was found to be an inverted Meckel's diverticulum obstructing the lumen of the intestine.

Ankyloglossia superior (palatoglossal adhesion) is an extremely rare congenital condition with only 14 previously reported cases. When found in conjunction with other congenital abnormalities, such as cleft palate, gastrointestinal malformations, and limb malformations, this anomaly is considered part of ankyloglossia superior syndrome. We present a case of a newborn female found to have ankyloglossia superior syndrome. Surgical repair is also described. We review the available literature and discuss theories regarding the etiology of ankyloglossia superior syndrome. Clinicians should have a high degree of suspicion for other congenital anomalies when a neonate is found to have ankyloglossia superior.

Major developmental paradigms are highly conserved among vertebrates. The contribution of developmental biology to the understanding of human disease and regeneration has soared recently. We review advances in the molecular and genetic understanding of gastrointestinal development using evidence from both mammalian and nonmammalian models. When appropriate, we highlight relevance and applicability to human disease.

Meckel's diverticulum (MD) is one of the most common congenital gastrointestinal malformations. It is difficult to make a preoperative diagnosis of MD. To date, few data are available describing the diagnosis of MD by double-balloon enteroscopy (DBE) and capsule endoscopy (CE).To assess the value of DBE in the diagnosis of MD and comparatively evaluate the diagnostic yield of DBE and CE for MD. A single-center study was performed on patients with a confirmed diagnosis of MD by surgery and postoperative pathology between January 2003 and December 2011.Seventy-four patients (60 males) with a mean age of 29.0 ± 14.3 years were analyzed; 33 (55.0%) were between 21 and 40 years of age. Gastrointestinal bleeding was the major finding in 86.5% of the patients who were referred for DBE or CE examination. The mean duration of symptoms was 32.3 ± 48.7 months. In the 74 patients, the diagnostic yield of DBE for MD before surgery was 86.5% (64/74), and correct diagnoses were made in the majority of cases by retrograde DBE, with a few cases by antegrade DBE. In the 26 patients undergoing CE before DBE, the overall diagnostic yield of DBE was 84.6%, significantly greater than that of CE (7.7%, P.000, McNemar's χ(2) test). Poor agreement was found between the 2 modalities (kappa = 0.03).For patients who are highly suspected of having MD, DBE provides a safe, effective, and reliable means of diagnosis before surgery.

Background/Aims: The study aimed to characterize the use of genetic testing after abnormal screening ultrasound. Methods: We performed a retrospective review of patients undergoing genetic testing after abnormal ultrasound. Genetic evaluation consisted of noninvasive prenatal screening (NIPS) or amniocentesis. Classification of ultrasound findings, type of genetic testing, and results were collected. Results: A total of 139 subjects underwent genetic evaluation after abnormal screening ultrasound. Screening via NIPS was pursued by 61 (44%) patients while 78 (56%) proceeded directly to amniocentesis. Patients electing for amniocentesis had more cardiac, neurologic, and gastrointestinal malformations while soft markers for aneuploidy prompted more NIPS screening. Results were negative in 85% of the NIPS group compared to 60% of the amniocentesis group. Only 8% of patients who underwent NIPS proceeded to diagnostic testing. Conclusion: Patients pursuing NIPS after abnormal ultrasound had more soft markers of aneuploidy. Patients pursuing diagnostic testing were more likely to have major structural malformations and more total abnormalities identified. Patients who proceeded directly to amniocentesis were more likely to have abnormal genetic testing.

Ankyloglossia superior syndrome is a rare malformation that consists of a fibrous or osseous connection between the tip of the tongue and the hard palate, and additional congenital anomalies such as cleft palate, gastrointestinal malformations, and deformed limbs. We present the case of a 5-year-old boy with ankyloglossia superior syndrome that comprised the complete complex malformation. We reviewed previous publications and summarise the different theories of its genesis.

Background Existing data on pediatric intestinal length (IL) are limited because most studies report postmortem values. Using prospective data, appropriate norms for IL were developed. Method The IL measurements, using a silk suture on the antimesenteric border, were prospectively made on patients between 24 weeks of gestational age and 5 years of age undergoing laparotomy. Patients with gastrointestinal malformations or those above or below 2 SDs for growth parameters were excluded. A curve fitting process was applied to determine the best model for IL (small bowel and colon separately) from among postconception age, weight, and height at surgery. Results One hundred eight patients participated in this study. Highly predictive ( R 2 > 0.8) models for IL were determined for all predictor variables (postconception age, weight, and height) examined suggesting that all of these variables are excellent predictors determinants of IL. Although all models had statistically similar properties, the model using height had the best performance across the full range of the variable. Conclusion Although age, weight, nor height was definitely superior for the prediction of IL, we propose that until external validations of our models occur, height at surgery be used for the prediction of expected small intestinal and colon length in infants.

There are few 3D well-documented studies about thoraco- abdominal malformations, except for the evaluation of fetal lung volume. Three-dimensional ultrasound provides additional diagnostic information for the evaluation of fetal thorax both for the diagnosis of skeletal anomalies and the biometric measurements of lungs. 3D adds few information about the diagnosis of gastrointestinal malformations, but 3D images are an effective tool to make a careful advice with parents and pediatric surgeons, especially in fetuses with anterior wall defects. Until now its use must be reserved in a research setting and offered to high-risk patients in order to understand which role 3D may play in the study of thoraco-abdominal malformations as a screening or diagnostic tool.

La agenesia traqueal es una malformación congénita infrecuente con una tasa de mortalidad extremadamente alta. Se presenta tras el nacimiento como distrés respiratorio severo, cianosis, ausencia de llanto e imposibilidad de soporte respiratorio endotraqueal. En la mayoría de los casos, se asocia con malformaciones cardiovasculares, gastrointestinales y respiratorias. La sospecha diagnóstica y un manejo quirúrgico precoz son la única vía para prevenir el fatal desenlace. Además, el diagnóstico precoz puede ayudar a los padres y al equipo médico a tomar las decisiones apropiadas. Hoy en día, no existe terapia definitiva eficaz que garantice una supervivencia a largo plazo. : Tracheal agenesis is an uncommon congenital malformation with an extremely high mortality rate. This malformation manifests after delivery as severe respiratory distress, cyanosis, lack of crying and impossibility of endotracheal respiratory support. This anomaly is usually associated with cardiovascular, respiratory and gastrointestinal malformations.Only a high index of suspicion and early surgical management will prevent death. An early diagnosis may also help the parents and the medical team to take appropriate decisions. Currently, there is no effective therapy that guarantees long-term survival.

Background: The impact of general anesthesia is considered a risk factor for developmental delay. Very few studies have been performed to measure the neurodevelopmental outcome of patients with selected malformations. Objectives: The purpose of this ambidirectional cohort study was to measure the neurodevelopmental outcome of patients with congenital gastrointestinal-tract malformations (GIM). Methods: Forty patients with relevant congenital GIM born in the period from June 2008 to April 2011 were identified. The inclusion criteria were a gestational age >32 completed weeks and surgery that required a general anesthetic within the first 28 days of life. The neonatal characteristics and anesthesia data were retrospectively collected. Based on information about the neonatal characteristics and socioeconomic background, a matched pair was found. All participants were tested at the corrected age of 24 months with the Bayley Scales of Infant Development II assessment. Results: The outcome was split into the psychomotor index (PDI) and mental developmental index (MDI). The patient group achieved a mean PDI of 103 and the control group achieved 106, i.e. these values were not significantly different. The mean MDI was 102 in the patient group and 110 in the control group. This difference was significant (p = 0.022). Detailed analysis of the items showed no significance for nonverbal items but a significant difference for verbal items (p = 0.029). Further analysis showed no correlation between relevant anesthesia data and the neurodevelopmental outcome. Conclusions: We found lower MDI scores due to worse verbal abilities in the patient group. Children born with GIM should be considered a risk group with respect to language development.

The aim of this prospective study was to evaluate the prevalence and pattern of gastrointestinal malformations (GIM) among Iranian newborns in Gorgan, North of Iran. From 1998 through 2003, 37,951 live births in Dezyani hospital in Gorgan, North of Iran, were screened for gastrointestinal malformations. Clinical and demographic factors of diagnosed cases were recorded in a pre-designed questionnaire for analysis; sex, ethnicity, type of GIM and associated anomalies. The overall prevalence rate of gastrointestinal malformations was 10 per 10,000 births. The imperforate anus (5 per 10,000) was the commonest birth defect in gastrointestinal tract. The prevalence rate of GIM was 8.2 per 10,000 in males and 10.7 per 10,000 in females. According to the parental ethnicity, the prevalence rates of GIM were 6.7, 15.8 and 17.6 per 10,000 in Fars, Turkman, and Sistani, respectively. There were eight cases (21%) with associated anomalies. The prevalence rate of GIM in North of Iran is not similar to the previous studies in Iran and Middle East and ethnic background may be a causative factor in the rate of GIM in this area.

But: Rapporter l'epidemiologie, les malformations associees, la morbidite et la mortalite durant les 5 premieres annees de vie pour les enfants ayant des malformations gastro-intestinales (GIM). Methodes: L'etude utilise les informations d'un registre des malformations congenitales (Eurocat) et les informations des resumes d'hospitalisation. L'etude inclue les enfants vivants a la naissance, les morts foetales avec un âge de 20 semaines et plus, et les avortements induits apres diagnostic pre-natal de malformation pour tous les enfants nes durant la periode 1980-1993. Resultats: Un total de 109 enfants et foetus avec 118 GIM ont ete inclus dans l'etude. Ceci entraine une prevalence de 15,3 cas pour 10 000 naissances (12,6-18,5). Une atresie anale etait presente dans 7 des 9 cas presentant plus d'une GIM. Il y avait 38 cas (35%) avec des malformations associees et/ou des anomalies caryotypiques. 32 des 90 enfants nes vivants vont mourir durant les cinq premieres annees de vie, la majorite des deces survenant dans la premiere semaine. La mortalite etait significativement augmentee chez les enfants ayant des malformations associees ou des anomalies du caryotype par rapport aux enfants avec une GIM isolee (p < 0,01). Une evolution post-operatoire sans probleme etait notee chez 74% des 58 survivants. Conclusion: Le pronostic des enfants avec GIM est tres dependant de la presence de malformation associee ou d'anomalie caryotypique. La chirurgie des GIM peut etre realisee avec une mortalite basse. La morbidite est haute pour un petit groupe d'enfants mais la majorite des survivants a une evolution post-operatoire non compliquee.

Gastrointestinal atresias are a common and serious feature within the spectrum of gastrointestinal malformations. Atresias tend to be lethal, although, now-days surgery and appropriate care can restore function to the affected organs. In spite of their frequency, their life threatening condition and report history gastrointestinal atresias' etiology remains mostly unclarified. Gastrointestinal atresias can occur as sporadic but they are more commonly seen in association with other anomalies. For the syndromic cases there is mounting evidence of a strong genetic component. Sporadic cases are generally thought to originate from mechanical or vascular incidents in utero, especially for the atresias of the lower intestinal tract. However, recent data show that a genetic component may be present also in these cases. Embryological and genetic studies are starting to uncover the mechanism of gastrointestinal development and their genetic components. Here we present an overview of the current knowledge of gastrointestinal atresias, their syndromic forms and the genetic pathways involved in gastrointestinal malformation.

In an audit to evaluate fetal gastrointestinal (GIT) malformations, case sheets of all mothers who gave birth to newborns with GIT malformations were analysed regarding the maternal history, prenatal ultrasound and the postnatal structural malformations and perinatal management. In 1999, eleven babies were born with gastrointestinal malformations, one was a still birth. Nine had associated malformations of other systems, two had trisomy 21. Eight babies were operated in the immediate newborn period, 5 survived. Ultrasound was not very accurate in the diagnosis of GIT anomaly in this series. In view of associated chromosomal and structural anomaly a fetal ECHO and genetic amniocentesis is warranted. Most of these babies require immediate surgery after birth, so they need to be delivered in a centre which is equipped with good neonatal and pediatric surgery care.

Sirenomelia, also known as the mermaid syndrome, is a rare congenital malformation of uncertain etiology. It is characterized by fusion of the lower limbs and commonly associated with severe urogenital and gastrointestinal malformations. In this report, we describe the first case of an infant with sirenomelia and a massive angiomatous lumbosacral myelocystocele.

The aim of the study was to construct new reference growth charts for weight, length and head circumference of Egyptian children with Down syndrome (DS) from birth to 36 months of age. These specific charts may be used by health professionals involved in medical, physical and developmental care of Egyptian children with Down syndrome. The study included 434 children with non-disjunction trisomy 21, 0-36 months of age. They were 54.4% males and 45.6% females and had no concomitant chronic disease (congenital heart disease, gastrointestinal malformations, hypothyroidism, and blood disorders). Overall, 1,955 observations were performed of weight, length and head circumference. The data for each sex were divided into 37 different age groups with 1-month intervals. All measurements were taken using standardized equipments and following the international recommendations. Values were statistically analyzed and growth curves were plotted as means and standard deviations (SD). Growth measurements evaluated in all age groups of both sexes were significantly lower than those of the controls. There was a gender difference in weight, length and head circumference, males with Down syndrome had higher values. In conclusion, we suggest that these new growth charts specific for Down syndrome children may be used in optimizing direct Egyptian DS children care and in providing anticipatory guidance in term of optimal physical growth and early detection of hidden factors affecting growth.

Down syndrome (DS) is the most common genetic cause of intellectual and developmental disabilities in the United States with an estimated birth prevalence of 1:691 births; however, worldwide estimates of the number of individuals with intellectual and developmental disabilities, including DS, remain speculative. Little is known about the global health impact of DS, such as heart defects, gastrointestinal malformations, and other medical and behavioral issues. Further research is needed to develop the next generation of novel therapies and compounds aimed at improving cognition, reducing dementia, and mitigating other manifestations of DS. To address these challenges, the National Institutes of Health has created the first web-based, voluntary registry and data resource called DS-Connect: The Down Syndrome Registry to collect demographic and health information about individuals with DS.HighlightsDown syndrome is the most common genetic cause of intellectual and developmental disabilities; however, worldwide estimates remain speculative.Little is known about the global health impact of Down syndrome, such as heart defects, gastrointestinal malformations, and other medical and behavioral issues.To address these challenges, the National Institutes of Health has created the first web-based, voluntary registry and data resource called DS-Connect: The Down Syndrome Registry (http://DSConnect.nih.gov).

Sirenomelia is a rare congenital malformation and is characterized by complete fusion of the lower limbs, commonly associated with lethal urogenital and gastrointestinal malformations. Here, we are presenting a case of sirenomelia diagnosed at birth.

Trisomy 18 or Edwards syndrome is a chromosomal disease characterized by involvement of many organs and systems, and limited survival.1 The aim of our study was to determine the frequency and types of major gastrointestinal abnormalities observed among patients with Edwards syndrome. The sample consisted of patients consecutively evaluated over the period between 1975 and 2008 in a clinical genetics service at a referral hospital in southern Brazil. Clinical data and karyotype results were gathered from this hospital’s medical records. We use Fisher’s exact test (two-tailed) to compare frequencies (P values < 0.05 were considered significant). Thus, our sample was composed of 50 patients, of whom 33 (66%) were female. Their ages at the first evaluation ranged from 1 day to 16 years (median 14 days). Eight of the patients (16%) were born in that hospital. Presence of a single lineage with free trisomy of chromosome 18 was the main abnormality, observed in 90% of the cases. The remainder consisted of patients with mosaicism. Major gastrointestinal abnormalities were observed in eight patients (16%): two cases of esophageal atresia (4%), three of tracheoesophageal fistula (6%) (one associated with esophageal atresia), one of diaphragmatic hernia (2%) and three of omphalocele (6%). Among these eight patients, five (62%) were female. Their ages at the time of the initial evaluation ranged from one to 70 days (median 7.5 days). Only two patients (25%) presented a clinical suspicion of Edwards syndrome. Additional abnormalities, including minor and major anomalies, were observed in all cases. These included dysmorphic features like a clenched fist with overlapping fingers and major malformations like congenital heart defects. None had a chromosomal constitution with mosaicism. Three patients underwent surgical correction of their defects (one with esophageal atresia, one with tracheoesophageal fistula and one with omphalocele). In all cases, the diagnosis of Edwards syndrome was made only after surgery. Gastrointestinal malformations are frequent among patients with Edwards syndrome. In the literature, the frequency of esophageal atresia among these patients ranges from 16 to 18%.2-4 Despite the frequency of 4% observed in our study, no statistically significant difference was seen using Fisher’s exact test when we compared it with these studies. However, it is noteworthy that the samples in other studies (n = 24 to 39 patients) were smaller than in ours (n = 50). Patients with esophageal atresia usually present the associated finding of tracheoesophageal fistula,4,5 as observed in one of our two patients. Omphalocele has been described in less than 10% of the patients,2-5 which is compatible with the rate in our study (6%). Despite the possible association described in the literature,5 none of our patients with omphalocele presented a neural tube defect. Diaphragmatic hernia is considered to be a less common abnormality, and has been described in less than 8% of the patients.2-4 This frequency was similar to our study (2%). Thus, Edwards syndrome should always be considered among dysmorphic children presenting these major gastrointestinal malformations. Diagnosing it is important for proper management and for determining the prognosis for these patients. IPhD. Clinical Geneticist, Universidade Federal de Ciencias da Saude de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil. IIMD. Postgraduate, Postgraduate Program on Pathology, Universidade Federal de Ciencias da Saude de Porto Alegre (UFCSPA), Porto Alegre, Rio Grande do Sul, Brazil. IIIUndergraduate Medical Student, Universidade Federal de Ciencias da Saude de Porto Alegre (UFCSPA), Porto Alegre, Rio Grande do Sul, Brazil. IVPhD. Adjunct Professor of Clinical Genetics and Professor of the Postgraduate Program on Pathology, Universidade Federal de Ciencias da Saude de Porto Alegre (UFCSPA), and Clinical Geneticist, Universidade Federal de Ciencias da Saude de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil. VMD. Professor, Instituto de Educacao e Pesquisa (IEP), Hospital Moinhos de Vento (HMV), Porto Alegre, Rio Grande do Sul, Brazil. VIMD. Postgraduate Student, Postgraduate Program on Pathology, and Assistant Professor of Clinical Genetics, Universidade Federal de Ciencias da Saude de Porto Alegre (UFCSPA), and Clinical Geneticist, Universidade Federal de Ciencias da Saude de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil. VIIPhD. Associate Professor of Clinical Genetics and Coordinator of the Postgraduate Program on Pathology, Universidade Federal de Ciencias da Saude de Porto Alegre (UFCSPA), and Clinical Geneticist, Universidade Federal de Ciencias da Saude de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil.

Jejunal intussusception in a Chinese 10-year-old boy affected by the blue rubber bleb nevus syndrome is presented and discussed. The syndrome is rare, sporadically found with possible dominant inheritance, and due to a gene mutation mapped on the short arm of chromosome 9. It presents with distinctive cutaneous and gastrointestinal malformations together with possible other organ involvement. Gastrointestinal malformations tend to bleed and lead to anaemia. Infrequent complications of the gastrointestinal malformations are volvulus, intestinal infarction and intussusception. The age of the patient and the jejunal intussusception precipitated by a vascular malformation containing calcifications (which were also found in different gut segments) make this case remarkable.

Background: In contrast with other malformations, congenital anomalies of the gastrointestinal tract have been scarcely investigated. Methods: The prevalence of gastrointestinal malformations with special reference to associated disorders and intrauterine growth was retrospectively analyzed in the newborn infants admitted to the Neonatal Intensive Care Unit of the Department of Pediatrics, University of Pecs, Hungary, in the 14-year period between 1987 and 2000. Results: Of 4,241 neonates with gastrointestinal malformations, 241 (5.68%) had a total of 304 malformations (excluding Hirschsprung disease). In 133 patients, the gastrointestinal anomalies were observed as one of multiple malformations; a specific syndrome or association was diagnosed in 36 cases. Skeletal disorders were the most frequently associated anomalies. Intrauterine growth retardation was found in a large number of patients with both isolated and multiple gastrointestinal malformations (38.9% and 30.8%, respectively). Conclusions: Gastrointestinal malformations often are complicated by skeletal anomalies and intrauterine growth retardation. The association among these disorders requires further investigation. However, from a practical point of view, this association should be considered in treating affected patients.

The perioperative care of neonates and infants presents problems that differ greatly from those seen in older children and adults and has resulted, during the last few decades, in dramatically decreased morbidity and mortality rates in neonates and infants affected by congenital gastrointestinal malformations. Surgery-associated mortality in the neonate has declined from greater than 50% to less than 10%. Refined respiratory care, antibiotics and improved nutrition with a greater knowledge of the needs of the surgical patient have together improved the survival chances for surgical neonates and infants. This article reviews some important aspects of the perioperative care of the neonate and infant. Keywords: neonates, nutrition, postoperative care, surgery

Variations in the anatomy of the gallbladder, the bile ducts, and the arteries that supply them and the liver are important to the surgeon, because failure to recognize them can cause iatrogenic injury to the biliary tract. A surgeon should be always be careful while operating in this area. In addition these anomalies are associated with a range of other congenital anomalies, including biliary atresia and cardiovascular or other gastrointestinal malformations, biliary lithiasis, choledochal cyst, anomalous pancreaticobiliary junction etc, so a look out for other anomalies should be carried out simultaneously.

We present the results of a study performed on a Sicilian population of children with Down syndrome (DS) 0–14 years of age, observed between 1977 and 1988. Data from the present report concern 382 subjects with nonmosaic 21 trisomy, including 239 males (62.6%) and 143 females (37.4%). We excluded all DS children observed in the same period with associated pathology (congenital heart defects, gastrointestinal malformations, malabsorption, hypothyroidism, and thalassemia). Overall, 1,464 measurements were performed of length or height, weight, and head circumference. Means and standard deviation (SD) were calculated for all of these parameters. Our data confirm a trend toward a progressive improvement of growth in children with DS, as shown in other recent reports. The purpose of this study was also to create a “normal growth pattern” useful to evaluate DS children and also to diagnose early pathologic conditions affecting growth, such as autoimmune diseases.

We have evaluated the effectiveness of routine prenatal ultrasound screening in detection of selected groups of major gastrointestinal malformations occurring among 690 123 pregnancies monitored from July 1st 1996 to December 31st 1998 in 19 European Congenital Malformation Registries. There were 243 cases of abdominal wall defects, 177 cases of diaphragmatic hernia and 386 cases of gastrointestinal atresia/stenosis. Only 57% of cases with diaphragmatic hernia and two thirds of cases of omphalocele compared to 95% of the fetuses with gastroschisis are currently being identified in an unselected population offered routine mid trimester ultrasound screening in europe. Among various cases of atresia/stenosis, the highest detection rate was recorded for duodenal (59%) and anorectal (32%) anomalies. Sensitivity of prenatal ultrasound clearly depends on the type of malformation and the presence of other structural anomalies or chromosomal aberrations. There is also significant variation in detection rates between different european regions reflecting policies, equipment and operators experience. The highest rates of elective top after prenatal ultrasound diagnosis were observed for omphalocele (50 or 36%), and gastroschisis (32 or 30%), and lowest for esophageal atresia (8%).