Family History Of Congenital Anomalies Research Articles

Management of Bilateral Ankyloblepharon with Hay-Wells Syndrome: A Rare Case Report

Introduction : Ankyloblepharon is a partial or complete fusion of the eyelid margins. This condition can be found as a common manifestation of Hay-Wells Syndrome along with lip and/or palate cleft and ectodermal dysplasia. This is an extremely rare case report demonstrating management of ankyloblepharon with Hay-Wells Syndrome.
 Case Illustration : A 5-day-old baby consulted from the Neonatal Intensive Care Unit (NICU) with multiple congenital abnormalities. The baby was born preterm (32 weeks) by C-section due to fetal malpresentation with low birth weight (1545 gram). There was no family history of congenital anomalies. Ocular examination revealed a partial ankyloblepharon on both eyes. The baby was also found with labiognatopalatoschizis, microtia, hyperkeratotic skin and nail dystrophy. Then, we planned to do an eyelid separation procedure at the NICU using only sterile conjunctival scissors with drops of Pantocaine 2%. Gentamicin eye ointment three times daily was prescribed. After the procedure, we can do a proper evaluation of the eye.
 Discussion : Hay-Wells Syndrome is a rare autosomal dominant disorder. This condition characterized by various congenital abnormalities such as ankyloblepharon, lip and/or palate cleft, and also other abnormalities involving the skin, hair, teeth, nails, and sweat glands. The management of ankyloblepharon can be done easily by excised the webs of skin that connecting the eyelid margins with topical anesthesia. The purpose of this management is mainly to prevent the risk of the development of deprivation amblyopia.
 Conclusion : Congenital ankyloblepharon has the potential to cause deprivation amblyopia. An immediate management is needed to provide a good prognosis regarding the visual development

Maternal Exposure to Stress During Covid-19 and Non-Syndromic Orofacial Clefts: A Cohort Retrospective Study.

The coronavirus (COVID-19) pandemic presents an opportunity to study stress's effect on the development of non-syndromic orofacial clefts (NSOFCs). This study was aimed at assessing maternal stress exposure during the pregestational to first trimester pregnancy periods and the development of NSOFCs during a year of the COVID-19 pandemic. Cohort study of infants with NSOFCs and controls matched based on recruitment site and age. Government hospitals in Saudi Arabia between November 2020 and November 2021. Data collection included NSOFC clinical examination and maternal stress exposure assessment using the Modified Life Events Questionnaire, the Fear of COVID-19 Scale, and a focus on the lack of pregnancy planning and a threatened miscarriage. Of the 557 infants recruited, 191 had NSOFCs. Logistic regression analysis with adjusted odds ratios (AORs) that removed the effects of confounders showed that any of the seven stressful life events (AOR:3.78, P < .001) and the family histories of relatives with NSOFCs (AOR:9.73, P < .001) increased the AOR for NSOFC development. In contrast, maternal folic acid (AOR:0.56, P.010), threatened miscarriage (AOR:0.17, P = .001), fear of COVID-19 (AOR:0.83, P = .038), and suspected COVID-19 infection (AOR:0.43, P = .008) decreased the AOR for NSOFC development. Along with an established risk associated with family history of birth defects, stressful life events may be a risk factor for NSOFC development. Beyond folic acid's known benefit, it may be that higher maternal health concerns contribute to increased protective health behaviors during pregnancy. Ongoing research is needed to specify the maternal risk factors for NSOFC.

Risk Factors Associated with Congenital Anomalies among Children Admitting Surgical Unit in Rapareen Pediatric Teaching Hospital in Erbil City

Backgrounds and objectives: Congenital anomalies, which can affect how the body operates, are anatomical, functional, or metabolic abnormalities that develop during intrauterine life. The study aimed to identify risk factors associated with congenital anomalies among children who are admitting to the surgical unit at Rapareen Pediatric Teaching Hospital in Erbil city. Methods: descriptive, case-control design was used to conduct this study. This study was conducted in Rapreen Pediatric Teaching Hospital in Erbil from 1st of July to 1st of October 2022. Non- probability purposive sample of 100 mothers with congenital anomalies children and admitted to the Surgical Unit and 100 mothers with other health condition children (control group) at Rapareen Pediatric Teaching Hospital were asked respectfully to participate in the study. Descriptive and frequency, Regression analytics was used for exploring the factors associated with congenital anomalies, Chi-square was used to find out the association between dependent and independent variables, and t-tests were used to identify the differences between case and control groups. Results: the results show that that anemia in pregnancy, previous history of congenital anomalies, family history of congenital anomalies, Pesticide use, living near of mobile station, passive smoke, stress during pregnancy, didn't use folic acid, and drink of coffee during pregnancy had a very high statistical difference between case and control P-value &lt;0.001, while Radiation exposure had a difference between case and control P-value of 0.045. That age of mothers and weight were factors which highly statistical associated with congenital anomalies among children P-value 0.001 and &lt;0.001 respectively, moreover age of father and history of previous abortion were factors behind the congenital anomalies P-value 0.033 and 0.017 respectively. Conclusions: the study concluded that age of mothers and father, weight, and history of previous abortion were factors behind the congenital anomalies. Primary prevention is most important to reduce the......

Prevalence and Pattern of Birth Defects in Saudi Arabia: A Systematic Review of Observational Studies.

Birth defects are a significant concern since they can lead to permanent disability and death. This study comprehensively reviews the prevalence and patterns of birth defects in Saudi Arabia. A systematic analysis of the literature retrieved from three databases (Pub Med, Science Direct, and the Saudi digital library) published between 1989 and 2022 was performed. Observational studies that addressed the prevalence and patterns of birth defects in Saudi Arabia were chosen based on the eligibility criteria, while systematic reviews, review articles, non-relevant articles, and studies that did not fulfill the eligibility criteria were excluded. Quality and risk of bias were evaluated based on the JBI and GRADE tools, respectively. We identified 26 eligible publications of 1277 records that included 297,668 patients from different regions of Saudi Arabia. The highest overall prevalence of birth defects was 46.5 per 1000 live births compared to a lowest rate of 8.6 per 1000 in one study. Several studies have reported positive associations of consanguinity, maternal folic acid supplementation, family history of birth defects or genetic abnormalities, and maternal co-morbidities. The most frequent birth defects include cardiac, genitourinary, craniofacial, and nervous system defects. Robust findings have improved our understanding of the prevalence and pattern of birth defects in Saudi Arabia. Importantly, future studies will likely require multicenter collaboration to arrive at appropriate sample sizes in the context of the effects of risk factors on elevated prevalence. Furthermore, quantitative data require careful evaluation in more complex statistical models.

Factors Associated With an Increased Risk of Facial Malformations.

Background Facial anomalies comprise a significant component of birth defects, with oral clefts being the second most common entity in this group. All organ systems within the body can be affected by congenital anomalies, mostly affecting the musculoskeletal system. Birth defects are among the leading causes of infant mortality and morbidity around the world. Objectives To find the factors associated with an increased risk of facial malformations so that steps for improving preventive measures can be taken. Methodology This was a cross-sectional study in which the data were collected from the files of infants admitted to the pediatric department. Data regarding the type of congenital anomaly, maternal investigations done during pregnancy, maternal history of medication, diabetes, hypertension, radiation exposure, smoking, and alcohol history, and family history of congenital anomalies was collected from the files of neonates and from the pediatrician. In the case of unanswered questions, the parent was contacted after 10 days with their consent. Results Of the sample size of 259 children (males: 132; females: 127), 68 (26%) had a cleft lip, 69 (27%) had a cleft palate, 110 (42%) had both cleft lip and palate, five (2%) had a cleft lip with nasal deformity, five (2%) had a cleft lip and palate with nasal deformity, and two (1%) had hypertelorism. Eight percent of neonates with craniofacial malformations had a family history of congenital malformations; 80.7% of neonates had a history of parental consanguinity; and 19.3% were unrelated. In regard to the mothers, 41.3% of the mothers had diabetes, 4% had hypertension, 4% had both gestational diabetes and hypertension, and 55% had neither of these diseases. Of the 55% of mothers with neither disease, 75% were married to their cousins, while 25% were not married within the family. Practical implications This study, highlighting the major factors contributing to the incidence of congenital facial malformations, will educate the community and establish awareness among the younger generation of the top causes of anomalies, therefore making a huge impact on increasing efforts to reduce the prevalence of congenital anomalies. Conclusion Defects of both the cleft lip and palate had the highest prevalence of facial malformations among study subjects (110 patients (42%)). Parental consanguinity is one of the leading factors associated with an increased risk of facial malformations.

Maternal risk factors for posterior urethral valves.

Posterior urethral valves (PUV) is a congenital disorder causing an obstruction of the lower urinary tract that affects approximately 1 in 4,000 male live births. PUV is considered a multifactorial disorder, meaning that both genetic and environmental factors are involved in its development. We investigated maternal risk factors for PUV. We included 407 PUV patients and 814 controls matched on year of birth from the AGORA data- and biobank and three participating hospitals. Information on potential risk factors (family history of congenital anomalies of the kidney and urinary tract (CAKUT), season of conception, gravidity, subfertility, and conception using assisted reproductive techniques (ART), plus maternal age, body mass index, diabetes, hypertension, smoking, and use of alcohol and folic acid) was derived from maternal questionnaires. After multiple imputation, adjusted odds ratios (aORs) were estimated using conditional logistic regression corrected for minimally sufficient sets of confounders determined using directed acyclic graphs. A positive family history and low maternal age (<25 years) were associated with PUV development [aORs: 3.3 and 1.7 with 95% confidence intervals (95% CI) 1.4-7.7 and 1.0-2.8, respectively], whereas higher maternal age (>35 years) was associated with a lower risk (aOR: 0.7 95% CI: 0.4-1.0). Maternal preexisting hypertension seemed to increase PUV risk (aOR: 2.1 95% CI: 0.9-5.1), while gestational hypertension seemed to decrease this risk (aOR: 0.6 95% CI: 0.3-1.0). Concerning use of ART, the aORs for the different techniques were all above one, but with very wide 95% CIs including one. None of the other factors studied were associated with PUV development. Our study showed that family history of CAKUT, low maternal age, and potentially preexisting hypertension were associated with PUV development, whereas higher maternal age and gestational hypertension seemed to be associated with a lower risk. Maternal age and hypertension as well as the possible role of ART in the development of PUV require further research.

Case Report of Bilateral renal agenesis (Potter s syndrome) at 26 weeks gestational age.

Case report: 19 years old PG married for 1 year, her husband is her cousin. No family history of congenital anomalies, No significant past medical history nor drug history. She as referred for anomaly scan, the pregnancy was uneventful till referral she was on good antenatal care received folic acid supplement. Ultrasound findings: Single, viable, breech presentation. Posterior high placenta Anhydramnios GA by ultrasound 26+3days (HC:28+6, FL:24+3, AC: 24+4) Congenital anomalies: Hydrocephalus (severe ventriculomegaly measuring 22cm, normal is &lt;10cm Dilated third ventricle (6mm) thalami are not seen well. Both kidneys show features of multicystic changes No cortico-medullary differentiation. Bladder filling is not seen Conclusion A picture suggestive of bilateral non-functioning kidneys. Hydrocephalus. No major anomaly seen however other anomalies can’t be excluded due to poor visualization. Impressionvery poor outcome.

Multiple Correspondence of Abnormal Birth History with Genetic and Environmental Risk Factors

Objective To investigate the multiple correspondence of genetic and environmental risk factors with abnormal birth history and provide a scientific basis for improving the birth defects surveillance system and reducing the incidence of birth defects. Methods Data were collected from all the perinatal infants from 28-week-old fetuses to 7-day-old infants born in all the hospitals with obstetrical department in Xi'an from 2003 to 2015. Results A total of 1 236 937 perinatal infants were surveyed,including 10 619 with birth defects.The average incidence rate of birth defects was 0.86% (0.70%-1.15%).Multiple correspondence analysis showed that the women who had had 1 or 2 children with birth defects were associated with the history of spontaneous abortion,family history of birth defects,and history of exposure to toxic and harmful substances.The women who had had 3 or more children with birth defects showed stronger association with family history of birth defects.The birth defects in women with history of spontaneous abortion (257/10 619) was ranked in the order of congenital heart disease,polydactyly,neural tube defects,congenital hydrocephalus,cleft lip with cleft palate,and simple cleft lip.The birth defects in women who had given birth to children with birth defects (135/10 619) followed the order of cleft lip with cleft palate,anencephaly,hydrocephalus,neural tube defects,cleft lip,and talipes equinovarus. Conclusions Abnormal birth history is associated with family history of birth defects and history of exposure to environmental risk factors.Giving birth to three or more children with birth defects is highly correlated with the family history of birth defects.

SIRENOMELIA, THE FETAL MERMAID - A RARE CASE REPORT

Sirenomelia or mermaid syndrome is a rare congenital condition. Condition is characterised by fusion of lower limbs to form one single lower limb and is associated with bilateral renal agenesis, severe pulmonary hypoplasia, genitourinary abnormalities, anomalies of lumbosacral spine and pelvis, anorectal defect, gastrointestinal anomalies, single umbilical artery. It affects 1 in 100,000 live births worldwide, with the male to female gender ratio being 3:1. We report a case of sirenomelia type-III in a multigravida female reported to our hospital at term gestation. Her medical history was unremarkable, no associated risk factors, no history of drug abuse. No family history of congenital anomalies. Condition is fatal due to associated visceral anomalies. Prenatal diagnosis is difcult in late second and third trimester as severe oligohydramnios limits the visualisation of anomalies. Early diagnosis in rst or early second trimester is recommended when the normal amount of amniotic uid allow detailed sonographic scanning.

Risk Assessment for Birth Defects in Offspring of Chinese Pregnant Women.

Objective: This study aimed to develop a nomogram for the risk assessment of any type of birth defect in offspring using a large birth-defect database in Northwest China. Methods: This study was based on a birth-defect survey, which included 29,204 eligible women who were pregnant between 2010 and 2013 in the Shaanxi province of Northwest China. The participants from central Shaanxi province were assigned to the training group, while the subjects from the south and north of Shaanxi province were assigned to the external validation group. The primary outcome was the occurrence of any type of birth defect in the offspring. A multivariate logistic regression model was used to establish a prediction nomogram, while the discrimination and calibration were evaluated by external validation. Results: The multivariate analyses revealed that household registration, history of miscarriages, family history of birth defects, infection, taking medicine, pesticide exposure, folic acid supplementation, and single/twin pregnancy were significant factors in the occurrence of birth defects. The area under the receiver operating characteristic curve (AUC) in the prediction model was 0.682 (95% CI 0.653 to 0.710) in the training set. The validation set showed moderate discrimination, with an AUC of 0.651 (95% CI 0.614 to 0.689). Additionally, the prediction model had a good calibration (HL χ2 = 8.106, p= 0.323). Conclusions: We developed a nomogram risk model for any type of birth defect in a Chinese population based on important modifying factors in pregnant women. This risk-prediction model could be a tool for clinicians to assess the risk of birth defects and promote health education.

Pattern of Congenital Central Nervous System Anomalies Among Newborns at A Regional Special Care Baby Unit (SCBU) in Makurdi, North Central Nigeria

Background: Congenital anomalies of the central nervous system (CNS) are important causes of childhood mortality, chronic illness and disability. They have significant implications for childhood growth and development particularly in resource limited settings. Areview of their occurrence is valuable to instituting preventive and curative health care services.Objective: To document the pattern of congenital CNS anomalies in our practice Subjects and Method: A retrospective study of all neonatal admissions with congenital anomalies of the CNS (Patients) admitted into the Special Care Baby Unit (SCBU) of Benue State University Teaching Hospital (BSUTH) in Makurdi-Nigeria, between June 2013 andJanuary 2016. The anomalies were classified according to the ICD 10 Classification. Other parameters assessed were: age at admission, gestational age at delivery, family history of congenital anomalies, maternal age, social class, history of ante natal care, and admission outcome.Results: A total of 73 (9.3%) out of the admitted 785 neonates had congenital anomalies and majority (28, 38.4%) were of the CNS. The affected patients had a male preponderance (20, 71.4%). Myelomeningocele was the commonest CNS anomaly (20, 71.4 %). Poor antenatal care, lack of periconceptional folic acid (pFA) intake, late folic acid supplementation, low socio economic class, and late presentation were all associated with the incidence of congenital CNS anomalies. The patients had a neonatal mortality rate of 7.1% over the study period of 30 months (2.8% per year).Conclusion: Congenital CNS anomalies were the predominant congenital anomalies, and myelomeningocele was the commonest. The study underscores the need to institute a comprehensive healthcare programme for the prevention and management of congenital anomalies of the CNS in our practice.

Pattern of Congenital Overt and Occult Pediatric Surgical Anomalies in a Tertiary Care Centre Over 5 Years

ongenital anomalies are important cause of infant and childhood deaths, chronic illness and disability. The proportion of deaths and disability due to congenital anomalies has increased, as deaths due to other diseases have decreased over the years due to better health care. Hence it is essential to have basic epidemiological information of these anomalies. This is a hospital based, cross-sectional, record based study, conducted in the Department of Pediatric Surgery, Govt. Medical College Thiruvananthapuram, Kerala. Sample size included 300 children below the age of 12years admitted in the department of pediatric surgery with various major congenital anomalies, over a period of 5 years. More than half of these children were admitted after infancy for treatment, male children were more compared to females. Majority of these children were from low socioeconomic group. Only in 5.6% cases there was a history of consanguineous marriage. In 7.33% there was family history of congenital anomalies. In 32% cases the anomalies were detected in the antenatal period. Most of the anomalies were isolated anomalies. Genitourinary system was the most common system to be involved followed by, gastrointestinal tract. 91.67% children underwent surgical treatment, and only 10.67% children had major complications in postoperative period. This study shows that congenital anomalies are a major cause of hospital admissions in children of all ages. Pattern of anomalies seen in various centers are different. Knowledge of the pattern of congenital anomalies may be useful in planning health services. Keywords: Congenital, Anomalies, Pediatric surgery.

Prenatal and Postnatal Detection of Fetal Structural Defects by Abdominal Ultrasound and Physical Examination in Azadi Teaching Hospital in Kirkuk City

Background: The prevalence of birth defects increased abruptly in recent years especially in Iraq. The etiology may be related to either genetic or environmental factors. Material & Method: In this cross sectional study that is conducted in Azadi Teaching Hospital in Kirkuk city in Sonographic unit & delivery room. A total of 1814 prenatal fetuses and postnatal newborns with their mothers were involved in this study. All the fetuses or newborns were examined for search of different fetal structural defects. The aim of the study: Was to identify the prevalence of fetal structural defects among pregnant women who attending Azadi Teaching Hospital. Results: Neurological defects were the most frequent detected anomaly (58.8%) followed by skeletal defects (15.4%), (10.3%) for hydropsfetalis, (7.7%) for urinary system defects, (7.7%) for cystic hygroma and only (5.1%) for facial defects. The anomaly detection rate by trans-abdominal ultrasound was (1.9%) during 2nd and 3rd trimesters, and postnatal diagnosis by physical examination was (2.5%). Conclusion: The following factors were found to involve in the etiology of fetal structural defects; family history of congenital anomalies, maternal age, multigravidas mothers, taking tonics and supplements during pregnancy, smoking, living in rural areas finally socioeconomic status.

Hospital Course and outcome for patients with Anorectal malformations (Bucket-handle deformity), a 3-year experience from Khartoum north teaching hospital (2016 -2019)

Introduction: Anorectal malformations are some of the most common structural congenital malformations treated by pediatric surgeons globally. A bucket-handle deformity is a subtype of it characterized by a subepithelial midline raphe fistula. The etiology has not been fully understood but it is more likely to be multifactorial; genetic and environmental factors implicated. The outcome of surgery depends on the clinical presentation, early diagnosis, other associated malformations, surgeon’s expertise and a post-operative follow up care. Objectives: To analyze and evaluate pediatric patients with Bucket-handle deformity in terms of their hospital course (insight into the pre, peri and post-operative course). Methodology: This study was done at Khartoum North Teaching Hospital in Khartoum; Sudan. The targeted population were all pediatric patients with this deformity in our pediatric surgery department. Data was collected using a data collection sheet filled by the in-charge surgeon in the period from (March 2016 - March 2019). Results: In 72 pediatric patients with Bucket-handle deformity included, 39 (54.2%) were males and 33 (45.8%) were females. The mean age for patients was 2.28 years and 2.3 years at the time of surgery. When it comes to their gestational age at time of delivery, almost of them (82%) were born at term and about (16.7%) were preterm and only a small fraction (1.4%) were post-term. Ten patients (13.9%) have other anomalies that mainly cardiac and only 3 (4.2%) have an associated family history of congenital anomalies. Only 9.7% of patients were septic on admission and they had a slightly longer pre-operative and post-operatively hospital course when compared to non-septic patients. The average number of days patients stayed in hospital pre-operatively was 6.56 days and 10.72 days post-operatively. Overall, there was no post-operative complications of urinary or fecal incontinence and there was no constipation in the 6 months period following the surgery. Conclusion: This study showed that all pediatric patients with Bucket-handle deformity in our pediatric surgery department had good surgical outcome with no post-operative complications despite having a relatively long pre-operative and post-operative hospital course. Recommendations: Although results were excellent regarding the surgery, further studies should be carried out to expand the literature regarding evaluation of pediatric patients with Bucket-handle deformity in terms of their hospital course. More efforts need to be put to optimize pediatric patients for surgery even before referring them to a specialized pediatric surgery unit for the goal of minimizing the duration of their admission course.

Unilateral clubfoot with amniotic band in-utero.

A 28-year-old primigravida with 22.3 weeks of gestation came for dedicated level II ultrasonography for anomaly scan to the antenatal clinic of AVBRH, Sawangi (India). The previous antenatal check-up was not done. The patient neither had a history of maternal systemic diseases like diabetes or hypertension nor history of any trauma or drug intake during pregnancy. There was no family history of congenital anomalies. On obstetric examination, the uterus was of about 20 weeks in size. On ultrasonography, single live intrauterine foetus with an average gestational age of 21 weeks 5 days corresponding to effective foetal weight of 396 grams showing right foot abnormality with persistent adduction and inward rotation suggestive of clubfoot with mild pylectasis of left kidney was noted. However, there was no obvious abnormality of left foot. There was amniotic band in right lower quadrant of gravid uterus.

Demographic Factors Associated with Congenital Malformations Among Young Infants in Fallujah Maternity and Children Hospital, Fallujah City, Iraq

Background: Congenital anomalies are a major cause of infant morbidity and mortality in developing countries including our country. Registries and data on these anomalies are still primitive and poorly collated. In this study we aimed to assess the important demographic factors associated with the development of congenital anomalies. Methods: This was a cross-sectional hospital-based study involving 880 infants in the 1st year of life registered in the birth defect unit in Fallujah Maternity and Children Hospital in the period between 1st of January 2017 to the 31st of December 2019. The prevalence rate, the pattern of anomalies and the factors associated with their occurrence were determined. Results: The prevalence rate of the group enrolled in this study was 31/1000 total births, congenital heart defects was the commonest followed by central nervous system anomalies, 58% of the infants were males, 65% had ≥ 2.5 kg birth weight &amp; 95% were singletons. Family history of congenital anomalies was found in 31.25% of cases. The largest group of mothers (55.7%) were 21-30 years old &amp; 92.5% of fathers were less than 45 years old. Parental consanguinity reported in 64.3% of the total cases. Only 4.5% of mothers reported history of fever during pregnancy, and none of them had history of exposure to x-ray or teratogenic drug use. Gestational hypertension was reported in 10% of the total (880) mothers, hypertension and diabetes mellitus in 0.3%, while hepatitis C, hepatitis B, toxoplasmosis and epilepsy, each was reported in only one mother (0.1% of the total). Regarding the outcome of pregnancy, 66.6% were live births, 24.2% were abortions and 9.2% were stillbirths. History of previous abortions was reported in 22% of cases. Urban residents accounted for 63% of the families of congenitally abnormal infants while 37% were rural. Conclusion: Congenital anomalies are still a major cause for concern and tension in Fallujah society, there is serious need to establish a surveillance and good statistical system for congenital anomalies and efforts should be made to raise awareness of their occurrence and the associated risk factors in Iraq and other developing countries.

Meckel-Gruber Syndrome: A Case Report at RHUH

A rare lethal autosomal recessive condition called Meckel-Gruber Syndrome (MGS) has a clinical and genetical heterogenicity. A 15-year-old primigravid presented at the 16th gestational week of her pregnancy at the Rafic Hariri University Hospital (RHUH) for antenatal ultrasonography. She had a third degree consanguineous marriage with no previous uterine scars, no previous invasive testing, no previous fetal anomaly, no comorbidities and no family history of congenital anomalies. On the other hand, her current pregnancy was not the result of an Artificial Reproductive technique (ART) and her medication at home was only based on vitamins and calcium. The antenatal ultrasonography showed the following features: (1) occipital encephalocele (2) diffuse subcutaneous edema (3) bilateral dysplastic kidneys and the bladder was not visualized. These features were suggestive of Meckel Gruber Syndrome (MGS). We concluded that ultrasound in the context of genetic diseases, especially our MGS case, is considered as a secondary prevention tool.

Absence of the TRIP13 c.1060C>T Mutation in Wilms Tumor Patients From Pakistan.

Wilms tumor (WT) is the most common childhood malignant renal tumor. Germline mutations in several WT predisposition genes have been identified. However, the fundamental cause of most WT patients remains unexplained. Recently, a founder mutation, c.1060C>T (p. Arg254X) in a mitotic spindle checkpoint gene, TRIP13, was reported in 5 unrelated children with WT from the United Kingdom, of Pakistani descent from Azad Kashmir region. This observation suggests other children with WT in Pakistan may also harbor this mutation. We conducted the first study to assess the contribution of TRIP13 c.1060C>T mutation to WT in Pakistan. Constitutional genomic DNA from 68 Pakistani individuals including unrelated WT cases (n=26) and one (n=10) or both (n=32) of their parent(s) were screened for the TRIP13 c.1060C>T mutation using DNA sequence analysis. We also included positive controls in the analyses. The median age of WT diagnosis was 3.0 years (range, 0.75 to 10). The TRIP13 c.1060C>T mutation was not found in any WT patient (n=26) or their parents (n=42). Twenty-four patients (92.4%) presented with unilateral tumor and 2 patients (7.7%) were diagnosed with synchronous bilateral WT. Thirteen patients (50%) reported parental consanguinity. Thirteen patients (50.0%) belonged to the Punjabi ethnicity and 1 patient (3.8%) had a Kashmiri background. Four patients (16.7%) reported a family history of WT or other malignancies. The predominant histologic subtype was stromal (46.2%). The majority of patients presented with >5 cm of tumor size (81%). None of the patients had a personal or family history of congenital anomalies, or associated genetic syndromes. Our findings suggest that TRIP13 c.1060C>T mutation may be infrequent in Pakistani WT cases. Further evaluation of this mutation in a large number of WT patients of Kashmiri heritage and various ethnic backgrounds from Pakistan is warranted.

Hanhart syndrome: hypoglossia-hypodactylia syndrome.

Hanhart syndrome is a congenital disorder that causes an undeveloped tongue and malformed extremities and fingers. Small mouth, short or incompletely developed tongue (hypoglossia), absent or shortened fingers and/or toes, jaw abnormalities such as micrognathia, retrognathia or partially missing mandible (lower jaw), high-arched, narrow, palate, absent or unusually formed arms and/or legs. If the tongue and/or mouth are affected, this can worsen feeding difficulties that are already present due to the craniofacial abnormalities. A diagnosis of Hanhart syndrome is typically made based on the presence of characteristic signs and symptoms. To date, no specific disease-causing genes have been identified. We present the case of a 3000 g male infant who was born at 39 weeks' gestation to a 42-year-old gravida 2 para 2 mother via cesarean section. At the physical examination he was noted to have adactyly at two hands, micrognathia, incompletely developed tongue and high-arched palate. Tongue movements were inadequate because of the small size. When we looked at the pregnancy history the mother took thyroid drugs cause of hypothyroidism after thyroid surgery and there was no family history of congenital anomalies or consanguinity. Due to feeding difficulties he stayed at neonatal intensive care unit. Cranial and abdominal ultrasonographyic examination of the infant was otherwise normal. The infant was discharged home on full oral feedings on day 6.

Pattern of congenital anomalies in neonates at tertiary care centre in Hyderabad, India: a hospital based prospective observational study

Background: With advancements of perinatal, neonatal care congenital defects were the most common cause of morbidity and mortality in developed world. It is one of the common causes of morbidity and mortality in India. Its incidence also influenced by many preventable risk factors. Hence, we are carried out this study to know the changing pattern of congenital anomalies and to know the effect of environmental risk factors on congenital anomalies.Methods: Prospective observational study conducted at Niloufer hospital Hyderabad during period from November 2017 to 2018. We included intramural and extramural babies. Analysed data by appropriate statistical methods.Results: Most common system involved was Central nervous system (CNS) with 25 cases out of 112 cases followed by Gastrointestinal system (GIT)and Cardiovascular system (CVS). Meningomyelocele, anorectal malformations and acyanotic heart diseases were most common type of congenital anomalies. Thirty seven to forty weeks gestational age group babies were most commonly have congenital anomalies than other gestational age group babies. Low birth weight babies had higher percentage of congenital anomalies (2.64%). Congenital anomalies were more in the male sex (2.53%) as compared to female babies (1.73%). Maternal obesity, consanguineous marriage and previous family history of congenital anomalies associated with increased risk of congenital anomalies with significant p values.Conclusions: Incidence of congenital anomalies was 2.15%. Most of congenital anomalies were involved in CNS. Birth weight, Gestational age, Male sex, consanguineous marriage, maternal Obesity and previous family history of congenital anomalies were significantly associated with increased risk of congenital anomalies.