Presence Of Additional Anomalies Research Articles

Anastomotic leaks and the relationship with anastomotic strictures after esophageal atresia surgery; effects of patient characteristics

Background This study aimed to evaluate the link between anastomotic leaks (AL) and anastomotic strictures (AS) after esophageal atresia surgery and the influence of patient demographics. Materials and methods The clinical data of neonates who underwent surgical repair for esophageal atresia were retrospectively reviewed. The results of AL treatment and the relationship with AS, also the effects of patient characteristics were examined with logistic regression analysis. Results Primary repair was performed on 122 of 125 patients who underwent surgery for esophageal atresia. AL occurred in 25 patients and 21 were treated non-operatively. While 4 patients were re-operated, AL recurred in 3 and led to the death of one. There was no correlation between the development of AL and sex or the presence of additional anomalies. The gestational age and birth weight of patients with AL were significantly higher than those of patients without. AS developed in 45 patients. The mean gestational age was significantly higher in patients who developed AS (p < .001). While the development of AS was significantly higher in patients with AL (p = .001), the number of dilatation sessions needed was also significantly higher in these patients (p = .026). Complications related to anastomosis were less common in patients whose gestational age was ≤33 weeks. Conclusion Non-operative treatment remains effective for AL after esophageal atresia surgery. AL increases the risk of developing AS and significantly increases the number of dilatation sessions needed. Anastomotic complications are less common in patients with lower gestational age. NOVEL ASPECTS Gestational age and birth weight were found to be significantly higher in patients with anastomotic leaks than in those without and fewer anastomotic complications were encountered in patients whose gestational age was ≤ 33 weeks. Anastomotic stricture development was significantly higher in patients with anastomotic leaks and the number of dilatation sessions needed for treatment was also significantly higher in these patients.

Prognostic Value of Amniotic Fluid Viral Load to Predict Adverse Outcome in Pregnancies Complicated by Congenital Cytomegalovirus Infection: A Multicenter Study

Introduction: The aim of the study was to report the prognostic value of cytomegalovirus (CMV) viral load in the amniotic fluid (AF) in predicting the outcome of infected pregnancies. Methods: Multicenter retrospective study involving 11 Italian referral centers from 2012 to 2021 was conducted. Inclusion criteria were fetuses with confirmed congenital CMV infection. The primary outcome was the prognostic value accuracy of CMV quantitative polymerase chain reaction (qPCR) in AF in predicting the risk of additional anomalies detected either at follow-up ultrasound or fetal magnetic resonance imaging (MRI). The secondary outcome was prediction of postnatal clinical symptoms related to CMV infection. Multivariate logistic regression and area under the curve (AUC) analyses were used to analyze the data. Results: 104 fetuses were included. Associated anomalies detected at follow-up ultrasound or fetal MRI were detected in 14.4% of cases (15/104). Mean AF CMV viral load was significantly higher in fetuses with additional anomalies compared to those without additional anomalies at follow-up ultrasound or fetal MRI (3,346,634.27 ± 402,582.95 vs. 761,934 ± 222513,2 p < 0.001). At multivariate logistic regression analysis, CMV AF viral load was independently associated with the presence of additional anomalies at follow-up ultrasound or MRI, with an OR of 1.07 (p = 0.010), while maternal age (p = 0.24), trimester at maternal infection (p = 0.97), and type of infection (primary vs. non-primary) (p = 0.12) were not. CMV AF viral load had AUC of 0.755 for the occurrence of anomalies due to CMV infection, with an optimal cut-off point of >1,310,520 copies/mL, a sensitivity of 66.7%, a specificity of 84.3%, and a positive likelihood ratio of 4.24. Once excluding fetuses with anomalies at ultrasound or MRI, the diagnostic performance of qPCR in identifying fetuses with symptomatic infection after birth was low, with an AUC of 0.586. Conclusion: CMV viral load at second trimester amniocentesis has a moderate accuracy for the occurrence of CMV-related anomalies in fetuses with congenital infection and normal ultrasound at the initial diagnosis. Conversely, prediction of symptomatic infection is low.

Role of prenatal magnetic resonance imaging in fetuses with isolated severe ventriculomegaly at neurosonography: A multicenter study

ObjectiveThe aim of this study was to report the rate of additional anomalies detected exclusively at prenatal magnetic resonance imaging (MRI) in fetuses with isolated severe ventriculomegaly undergoing neurosonography. MethodMulticenter, retrospective, cohort study involving 20 referral fetal medicine centers in Italy, United Kingdom, Spain and Denmark. Inclusion criteria were fetuses affected by isolated severe ventriculomegaly (≥15 mm), defined as ventriculomegaly with normal karyotype and no other additional central nervous system (CNS) and extra-CNS anomalies on ultrasound. In all cases, a multiplanar assessment of fetal brain as suggested by ISUOG guidelines on fetal neurosonography had been performed. The primary outcome was the rate of additional CNS anomalies detected exclusively at fetal MRI within two weeks from neurosonography. Subgroup analyses according to gestational age at MRI (<vs ≥ 24 weeks of gestation) and the laterality of ventriculomegaly (unilateral vs bilateral) were also performed. Univariate and multivariate logistic regression analysis was used to analyze the data. Results187 fetuses with a prenatal diagnosis of isolated severe ventriculomegaly on neurosonography were included in the analysis. Additional structural anomalies were detected exclusively at prenatal MRI in 18.1% of cases. When considering the type of anomaly, malformations of cortical development were detected on MRI in 32.4% cases, while midline or acquired (hypoxemic/hemorrhagic) lesions were detected in 26.5% and 14.7% of cases, respectively. There was no difference in the rate of additional anomalies when stratifying the analysis according to either gestational age at MRI or laterality of the lesion. At multivariate logistic regression analysis, the presence of additional anomalies only found at MRI was significantly higher in bilateral compared versus unilateral ventriculomegaly (OR: 4.37, 95% CI 1.21–15.76; p = 0.04), while neither maternal body mass index, age, severity of ventricular dilatation, interval between ultrasound and MRI, nor gestational age at MRI were associated with the likelihood of detecting associated anomalies at MRI. ConclusionThe rate of associated anomalies detected exclusively at prenatal MRI in fetuses with isolated severe ventriculomegaly is lower than previously reported, but higher compared to isolated mild and moderate ventriculomegaly. Fetal MRI should be considered as a part of the prenatal assessment of fetuses presenting with isolated severe ventriculomegaly at neurosonography.

Periventricular pseudocysts of noninfectious origin: Prenatal associated findings and prognostic factors.

The purpose of this study was to establish prognostic factors in fetuses diagnosed with periventricular pseudocysts (PVPCs) without known congenital infection, between 28 and 37 weeks of gestation. This retrospective study included cases of fetal PVPC from 2008 to 2018. PVPCs were classified according to location, number, extension, morphology, and size. Additional findings, MRI and genetic studies were recorded. Pregnancy outcome, postnatal, or postmortem results were obtained. Images from patients with normal (Group 1) and abnormal postnatal development (Group 2) were compared for analysis of factors predictive of outcome. One-hundred and fifteen pseudocysts were observed in 59 patients. In 34 fetuses (57%), the PVPC was an isolated finding. Thirty-nine patients delivered live newborns, 27% opted for termination of pregnancy, and 4 patients were lost to follow-up. Eighty-four percent of the liveborns had normal development. When assessing for the influence of pseudocyst characteristics, a wide CSP, or large head circumference, neither of these affected the outcome. The presence of additional anomalies was the only positive predictor for abnormal development regradless of specific PVPC characteristics (P = .002). In fetuses with PVPCs, the presence of additional anomalies was the only predictor for adverse postnatal outcome. No association between cystic characteristics and adverse outcome was observed.

MRI as the Only Pre-Operative Imaging Modality in ARM: What Advantage does it Provide?

Background: MRI has not been traditionally used as an imaging modality for preoperative evaluation of ARM. It has been reserved for complicated ARM cases and Imaging in post-operative period. Aims: To study the role of MRI in preoperative evaluation of ARM patients, whether it be used as a single preoperative imaging investigation in ARM and what added advantage does it give to conventional imaging techniques. Settings and Design: Hospital based observational study was conducted over a period of 1 year which included 26 ARM patients who required preoperative imaging which was done using MRI.Methods and Material: Multi-planar T1 and T2WI images of pelvis were acquired followed by screening of abdomen done with coronal T2WI and screening of spine with T2FS sagittal images. Further sequences were acquired for evaluation of any target lesions as and when required. Images were evaluated for level of atresia, type of Fistula, additional anomalies in Vertebral / Spinal cord / Genital / Urinary system and sphincter muscle complex (SMC) development. Results were analysed using numbers, percentage and arithmetic mean.Results: MRI correctly identified the level of termination of rectal pouch in all patients. MRI correctly depicted the fistula in 89% cases. Seventy three percent cases had additional anomalies with 66% of cases with additional anomalies having multiple anomalies. MRI accurately evaluated SMC development in all cases.Conclusions: MRI provided elaborate pelvic anatomical details, precise information about the degree of development of pelvic musculature and information regarding the presence of additional anomalies in genitourinary and vertebra-spinal systems in a single sitting and without use of any ionizing radiation to child. We recommend MRI as the only needed imaging investigation in ARM cases before definitive surgical repair.

Prevalence, timing of diagnosis and pregnancy outcome of abdominal wall defects after the introduction of a national prenatal screening program.

To examine prevalence, time of diagnosis and outcome of fetuses with an exomphalos or gastroschisis, diagnosed since the introduction of a national prenatal screening program in 2007. A prospective cohort study was undertaken in two fetal medicine units in the Netherlands. Cases were included if the estimated due date was between 2009 and 2013. Outcome measures were gestational age at diagnosis, presence of additional anomalies and pregnancy outcome. A total of 141 exomphalos and 44 gastroschisis cases were included in the study, of which, respectively, 96 and 95% were diagnosed prenatally. The majority of the cases are visualized prior to the 20-week scan. In the exomphalos group, 83% had additional anomalies of which 57% had a chromosomal anomaly. Additional anomalies were present in 11% of the gastroschisis cases of which 40% had a chromosomal anomaly. The pregnancy termination rate was 61% (exomphalos) and 14% (gastroschisis). Almost all exomphalos and gastroschisis cases are diagnosed prenatally, the majority in the first trimester. Associated anomalies are far more common in exomphalos with a fourfold lower survival rate than gastroschisis. In the exomphalos group, the pregnancy termination rate doubled, while in the gastroschisis group the rate remained low. © 2017 John Wiley & Sons, Ltd.

Grommet Surgery in Children With Orofacial Clefts in England.

To assess grommet insertion practice in the first 5 years of life among children with an orofacial cleft in England. Analysis of national administrative data of hospital admissions. National Health Service hospitals, England. Patients born between 1997 and 2005 who underwent surgical cleft repair. Children receiving grommets before the age of 5 years. The proportion of children receiving grommets before the age of 5 years, the timing of the first grommet insertion, and the proportion of children having repeat grommet insertions were examined according to cleft type, the absence or presence of additional anomalies, socioeconomic deprivation, and region of residence. The study included 8,269 children. Before the age of 5 years, 3,015 (36.5%) children received grommets. Of these, 33.2% received their first grommets at primary cleft repair and 33.3% underwent multiple grommet insertion procedures. The most common age for the first procedure was between 6 and 12 months. Children with a cleft affecting the palate were more likely to receive grommets than children with a cleft lip alone (45.5% versus 4.5%). Grommet insertion practice also varied according to year of birth, absence or presence of additional anomalies, socioeconomic deprivation, and region of residence. Grommets practice in children with a cleft appears to vary according to their clinical characteristics. The differences in practice observed according to deprivation and region of residence need to be further explored.

Ventrikülomegali vakalarının ultrasonografik değerlendirilmesi

Objective: To evaluate retrospectively the demographic data of the patients diagnosed in or referred with the pre-diagnosis of ventriculomegaly to Perinatology Department of Adana and Ankara Hospitals of Baflkent University. Methods: In this study, 61 pregnant women with fetal ventriculomegaly diagnosed in our clinic or referred by other centers to the Perinatology Department of Ankara and Adana Hospitals of Baflkent University between May 2008 and March 2013 were evaluated in terms of their demographic data, diagnosis weeks, concomitant anomalies and the course of their pregnancies. SPSS v. 16.0 was used for statistical calculations. Results: The analysis of 61 pregnant women between 20 and 41 years old showed that it was the first pregnancy of 45.9% of them. Only 16.4% of them were at or over 35 years old. It was observed that 4.9% of them were conceived by assisted reproduction techniques. The rates of mild (10–12 mm), moderate (12.1–14.9 mm) and severe ventriculomegaly (≥15 mm) were 65.6%, 24.7% and 4.8%, respectively. Toxoplasma, Cytomegalovirus, Rubella or Herpes virus infections were not found in any case. Down syndrome was found in the karyotype analysis of 3 patients (4.9%). The ventriculomegaly was unilateral in 67.2% of the cases. The detection rate between 16 and 24 weeks which were also the weeks for detailed ultrasonography was 52.5%. There was an additional anomaly in 33.3% of the cases. The most frequent concomitant anomalies were found as increased nuchal thickness (13.3%), corpus callosum agenesis (11.1%) and nasal bone hypoplasia (8.9%). In their follow-ups, it was observed that the findings were regressed in 53.8% of the cases, progressed in 19.3% of the cases and remained unchanged in 26.9%. Conclusion: When ventriculomegaly is detected, the presence of additional anomalies should be investigated by detailed ultrasonographic examination during etiological investigation. In the selective cases, the physicians may utilize the method of magnetic resonance imaging to evaluate additional cerebral anomalies. It is also necessary to recommend karyotype analysis and investigating Toxoplasma, Rubella, Cytomegalovirus and Herpes virus infections in the presence of additional anomaly and even in isolated cases regardless of the level of ventriculomegaly. Patients should be followed up regularly.

Fetal renal anomaly: Factors that predict survival

ObjectiveTo find out the relative prevalence of renal anomalies detected in the antenatal period, and to look at factors that predict the postnatal outcome. MethodsIn this prospective study, all antenatal-detected renal anomalies booked at the tertiary health centre were evaluated and counselled. Aspects such as type of renal anomaly, oligohydramnios and presence of additional anomalies were noted. Stillborn babies underwent autopsy; all live born babies were followed for one year. Appropriate statistical analyses were performed to compare the antenatal factors with outcomes. ResultsRenal anomalies were detected in 136 out of 587 cases with major fetal anomalies. Most of the women were primiparous (65.4%). The mean gestation at presentation was 30 weeks; in 12 cases, diagnosis was possible before 20 weeks (8.8%). Antenatal hydronephrosis was the most commonly seen anomaly, with 61 cases; this was followed by bilateral cystic kidney in 50 cases. Out of the 136 cases, 12 (8.8%) underwent termination of pregnancy and 60 (44.1%) babies were stillborn. Autopsy was performed in 58 out of 72 (80.6%) cases after consent. Karyotyping was performed in 49 cases and abnormalities were detected in two (4.1%) of them. A total of 64 (47.1%) babies were live born; after one year, 49 (36.0%) of them were alive. Postnatal survival was highest in unilateral disease (85.7%). In cases with oligohydramnios, there was only 3.4% survival after one year; none of the cases with cystic kidney and oligohydramnios survived. The period of gestation at presentation of non-survivors was 25.9 weeks compared to 32.5 weeks with survivors. Among the cases with extra renal anomaly, 7.0% survived; none of the cases with associated cranio-vertebral defect or polydactyly survived after a year. ConclusionOut of the different renal pathologies that were diagnosed, survival was highest in the unilateral group. The factors associated with poor prognosis included bilateral disease, absence of amniotic fluid and presence of associated malformation.

Associated anomalies in congenital diaphragmatic hernia: perinatal characteristics and impact on postnatal survival.

We aimed to investigate the clinical characteristics and postnatal outcomes of fetuses with congenital diaphragmatic hernia (CDH) and additional anomalies. We reviewed the charts of fetuses with CDH managed between 2005 and 2013. Patients were divided into complex and isolated groups based on the presence of additional anomalies. We analyzed the respective polyhydramnios, liver herniation, stomach position, lung to thorax transverse area ratio (LTR), and prognoses of the two groups. The survival rates of both groups were assessed based on the LTR as well as on stomach and liver positions. CDH was diagnosed in 65 fetuses, and additional anomalies were found in 23. The incidences of liver herniation, polyhydramnios, and death were significantly higher, and LTR was significantly lower, in the complex group. The mortality rate of fetuses with a LTR <0.08 was lower than that of fetuses with a LTR of ≥0.08 in the complex group. Further, the survival rate of fetuses with intrathoracic liver was lower than those without liver herniation. The prognosis of complex CDH is poor. This may result from both the associated anomalies and the severity of CDH itself. Even in complex CDHs, intrathoracic liver and LTR values are useful in estimating postnatal outcome.

Pyloric atresia: Comorbidity determines outcome

Pyloric atresia is a congenital form of gastric outlet obstruction. The obstruction is relieved surgically, but survival is determined by the presence of additional anomalies. Herein, we report two cases of pyloric atresia. Our first patient was a neonate with epidermolysis bullosa who died of sepsis. The second was an infant who presented with postprandial emesis and had an uncomplicated postoperative course. We discuss the current understanding and management of this rare malformation.

Absent Fetal Nasal Bone

Our purpose was to review the outcomes of singleton pregnancies in which an absent nasal bone was noted on first- or second-trimester sonography and aneuploidy was not present. We identified singleton pregnancies from 2005 to 2011 in which an absent nasal bone was noted on sonography, aneuploidy was excluded, and newborn examinations were available for review. Sonographic reports were reviewed for anomalies, growth, and amniotic fluid volume. Newborn records were reviewed for physical examinations, complications, and radiologic or genetic tests. We identified 142 fetuses with a sonographic appearance of an absent nasal bone. We excluded 52 cases with aneuploidy and 33 in which newborn examination information was unavailable. Fifty-seven cases met inclusion criteria. For 3 euploid fetuses with an absent nasal bone on sonography, the presence of additional anomalies on second-trimester sonography ultimately signaled an adverse outcome: the presence of multiple congenital anomalies, a microdeletion syndrome, and a specific genetic diagnosis. All cases with adverse outcomes had additional prenatal sonographic findings. For the remainder, normal newborn examination findings provide some reassurance, especially in the setting of otherwise normal second-trimester sonographic findings. A microarray as a test for microdeletion and duplication syndromes in this situation could be considered.

Hospital care of children with a cleft in England

ObjectiveTo analyse hospital admissions in the first 2 years of life among children with cleft lip and/or palate in England.DesignAnalysis of national administrative data of hospital admissions.SettingNational Health Service hospitals.PatientsPatients...

Hospital admissions for dental treatment among children with cleft lip and/or palate born between 1997 and 2003: an analysis of Hospital Episode Statistics in England

Children with clefts have an increased tendency for dental anomalies and caries. To determine the pattern of hospital admissions for dental treatment during primary dentition among children with clefts. Cohort study based on Hospital Episode Statistics, an administrative database of all admissions to National Health Service hospitals in England. Patients born alive between 1997 and 2003 who had both a cleft diagnosis and cleft repair were included. The number of hospital admissions for surgical removal of teeth, simple extraction of teeth, and restoration of teeth before the age of seven was examined. Eight hundred and fifty-eight hospital admissions for dental treatment among 6551 children (<7year) with a cleft were identified. 66.4% of admissions were primarily for caries and 95.6% involved extractions. 11.4% of children had at least one admission for dental treatment. The presence of additional anomalies, having a more severe cleft type, and living in relatively deprived areas increased the risk of hospital admission. Factors increasing the risk of hospital admission among cleft children should be taken into account when planning services. Efforts to reduce the number of hospital admissions should be focused on disease prevention, particularly among those most at risk of caries.

Early Diagnosis of Extrahepatic Biliary Atresia in an Open-Access Medical System

IntroductionBiliary atresia (BA) is the most common cause of cholestatic jaundice in infancy. Early diagnosis and surgical management, ideally before 60 days of age, result in improved outcomes. We aimed to determine the age at diagnosis of BA in the Military Health System (MHS) and to compare the age at diagnosis by access to care models. We hypothesized that children with BA receiving primary care in military facilities have an earlier age at diagnosis due to decreased economic and access barriers.MethodsData for all Tricare enrollees born in fiscal years 2004–2008 with a diagnosis of BA were extracted from MHS databases. Non-parametric tests, Kaplan-Meier curves and log rank tests compared differences in age at diagnosis by type of primary care facility, gender, prematurity and presence of additional anomalies.Results64 subjects were identified within the five year period. Median age at diagnosis was 40 days [range 1–189], with 67% diagnosed by 60 days and 80% by 90 days. 45 (70%) received civilian primary care within the MHS. There was no difference in the median age at diagnosis between subjects in the MHS with civilian primary care vs. military primary care (37 days [1–188] vs. 46 days [1–189]; p = 0.58).ConclusionIn the MHS, two-thirds of infants with biliary atresia are diagnosed prior to 60 days of life. Gender, prematurity or presence of additional anomalies do not affect the timing of diagnosis. Civilian and military primary care models within the MHS make timely diagnoses of biliary atresia at equivalent rates.

Copy Number Variants in Candidate Genes Are Genetic Modifiers of Hirschsprung Disease

Hirschsprung disease (HSCR) is a neurocristopathy characterized by absence of intramural ganglion cells along variable lengths of the gastrointestinal tract. The HSCR phenotype is highly variable with respect to gender, length of aganglionosis, familiality and the presence of additional anomalies. By molecular genetic analysis, a minimum of 11 neuro-developmental genes (RET, GDNF, NRTN, SOX10, EDNRB, EDN3, ECE1, ZFHX1B, PHOX2B, KIAA1279, TCF4) are known to harbor rare, high-penetrance mutations that confer a large risk to the bearer. In addition, two other genes (RET, NRG1) harbor common, low-penetrance polymorphisms that contribute only partially to risk and can act as genetic modifiers. To broaden this search, we examined whether a set of 67 proven and candidate HSCR genes harbored additional modifier alleles. In this pilot study, we utilized a custom-designed array CGH with ∼33,000 test probes at an average resolution of ∼185 bp to detect gene-sized or smaller copy number variants (CNVs) within these 67 genes in 18 heterogeneous HSCR patients. Using stringent criteria, we identified CNVs at three loci (MAPK10, ZFHX1B, SOX2) that are novel, involve regulatory and coding sequences of neuro-developmental genes, and show association with HSCR in combination with other congenital anomalies. Additional CNVs are observed under relaxed criteria. Our research suggests a role for CNVs in HSCR and, importantly, emphasizes the role of variation in regulatory sequences. A much larger study will be necessary both for replication and for identifying the full spectrum of small CNV effects.

Prognosis of airway obstruction and feeding difficulty in the Robin sequence

To evaluate the course and prognosis of airway obstruction and feeding difficulty in the Pierre Robin sequence (PRS). Retrospective review of 60 patients with PRS between 1993 and 2002 at the University of California, Davis Medical Center. Patients were placed into diagnostic subgroups: (1) Isolated PRS; (2) Syndromic PRS (known syndrome with PRS); (3) Unique PRS (unique anomalies with PRS). Data regarding severity, duration, and management of airway obstruction and feeding difficulty were collected. Airway obstruction requiring intervention beyond positional therapy was seen in 28% isolated, 42% syndromic, and 58% unique PRS. One-third of patients who failed positional therapy were temporarily stabilized with a nasopharyngeal airway or endotracheal intubation. The remaining two-thirds of patients, who failed positional therapy required a surgical airway procedure. Four patients underwent mandibular distraction osteogenesis, resulting in successful decannulation or avoidance of tracheostomy. Thirteen patients underwent tracheostomy; mean duration of tracheostomy-dependence was 17.0 months in Isolated PRS and 31.7 months in Unique PRS (p < 0.01). Successful decannulation by age of 3 years was confirmed in 85% of patients who underwent tracheostomy. Tube feeding was required in 53% Isolated, 67% Syndromic, and 83% Unique PRS. Forty-two percent of PRS patients with a successful positional airway still demonstrated feeding difficulty. Short-term (0-3 months) and intermediate (4-18 months) tube feeding was more commonly required in Isolated and Syndromic PRS, while long-term (beyond 18 months) gastrostomy tube feeding was more commonly required in Unique PRS (p < 0.01). By 3 years of age, a successful oral diet was seen in 91% Isolated, 92% Syndromic, and 78% Unique PRS. Diagnostic subgroups based on the presence of additional anomalies help families and physicians in understanding the severity and duration of feeding and airway difficulty in PRS. Two-thirds of PRS patients who fail positional therapy may ultimately require a surgical airway procedure. Feeding difficulty can be present in the absence of clinically significant airway obstruction. Families and physicians should be encouraged that by 3 years of age, most patients were successfully taking an oral diet without airway obstruction.

Down syndrome associated with clinical manifestations of Kabuki syndrome: report of a case

OBJECTIVE: To describe an atypical case of Down syndrome presenting with additional clinical manifestations that might be components of Kabuki (Niikawa-Kuroki) syndrome.CLINICAL REPORT: We report the clinical history of a 19-month-old girl with a 47,XX, +21 karyotype, who presented brachycephaly, flat face, long palpebral fissures, eversion of the lateral portion of the lower eyelids, arched eyebrows with sparse lateral regions, long eyelashes, epicanthus, cortical cataract, small ears, protruding tongue, muscular hypotonia, developmental delay, hyperflexibility of joints, brachydactyly, and dermatoglyphic abnormalities.CONCLUSION: The diagnosis of Down syndrome was confirmed cytogenetically. However, the presence of additional anomalies - mainly in the ocular region - suggested that the child might also have the Kabuki syndrome.

The role of echocardiography in assessing the functional class of the patient with Ebstein's anomaly.

In 23 patients with Ebstein's anomaly of the tricuspid valve, the functional class of the patients has been related to the echocardiographic parameters generally used to diagnose this disorder. These are the extent of apical displacement of the tricuspid valve and the delay in tricuspid valve closure time related to that of the mitral valve. In addition, the functional class of the patients has also been evaluated in relation to the severity of tricuspid valve insufficiency and to the presence or absence of associated cardiac abnormalities. The study revealed that the echocardiographic parameters i.e. the degree of apical displacement of the tricuspid valve and the delayed closure time of the tricuspid valve have no predictive value for the patient's clinical condition. On the other hand, both tricuspid valve insufficiency and the presence of additional anomalies have a direct correlation with the well-being of the patient.