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congenital anomalies

Yi Shi, Yanhui Su, Joshua H Lipschutz, Glenn P Lobo
Cilia are highly-conserved organelles projecting from the cell surface of nearly every cell type in vertebrates. Ciliary proteins have essential functions in human physiology, particularly in signaling and organ development. As cilia are a component of almost all vertebrate cells, cilia dysfunction can manifest as a constellation of features that characteristically include, retinal degeneration, renal disease and cerebral anomalies. The terminology "Ciliopathies" refers to inherited human disorders caused by genetic mutations in ciliary genes, leading to cilia dysfunctions that form an important and ever expanding multi-organ disease spectrum...
December 2017: Clin Nephrol Res
Grace M Wang, Daniel Thuente, Brenda L Bohnsack
Purpose: Congenital ectropion uvea is a rare anomaly, which is associated with open, but dysplastic iridocorneal angles that cause childhood glaucoma. Herein, we present 3 cases of angle-closure glaucoma in children with congenital ectropion uvea. Observations: Three children were initially diagnosed with unilateral glaucoma secondary to congenital ectropion uvea at 7, 8 and 13 years of age. The three cases showed 360° of ectropion uvea and iris stromal atrophy in the affected eye...
June 2018: American Journal of Ophthalmology Case Reports
Gordon G Still, Shuo Li, Mark Wilson, Lincoln Wong, Paul Sammut
No abstract text is available yet for this article.
2018: Global Pediatric Health
Maria Pefkianaki, Adele Schneider, Jenina E Capasso, Barry Wasserman, Tanya Bardakjian, Alex V Levin
Heterozygous mutation in the PACS1 (phosphofurin acidic cluster sorting proteins 1) gene is a known cause of developmental delay, multiple congenital anomalies, dysmorphism, and ocular abnormalities. We present the case of an affected 10-year-old girl, conceived by assisted reproductive technology, who has ocular coloboma and findings characteristic of PACS1 mutation.
March 14, 2018: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
Abdulrahman Masrani, Sebastian McWilliams, Sanjeev Bhalla, Pamela K Woodard
PURPOSE: To report the anatomical associations and radiological characteristics of Scimitar syndrome on CT and MR. MATERIALS AND METHODS: Retrospective review of the medical records between February 2001 and February 2016 was performed. To identify patients, radiological reports were queried for "Scimitar" or "partial anomalous pulmonary venous return." Patients with radiological findings of Scimitar syndrome were included. Patients without cross-sectional imaging were excluded...
February 3, 2018: Journal of Cardiovascular Computed Tomography
Jokthan Guivarch, Clarisse Chatel, Jeremie Mortreux, Chantal Missirian, Nicole Philip, François Poinso
BACKGROUND: Autism spectrum disorders are serious neurodevelopmental disorders that affect approximately 1% of the population. These disorders are substantially influenced by genetics. Several recent linkage analyses have examined copy number variations associated with autism risk. Microdeletion of the 2q13 region is considered a pathogenic copy number variation. This microdeletion is involved in developmental delays, congenital heart defects, dysmorphism, and various psychiatric disorders, including autism spectrum disorders...
March 18, 2018: Journal of Medical Case Reports
C Ranieri, S Di Tommaso, D C Loconte, V Grossi, P Sanese, R Bagnulo, F C Susca, G Forte, A Peserico, A De Luisi, A Bartuli, A Selicorni, D Melis, M Lerone, A D Praticò, G Abbadessa, Y Yu, B Schwartz, Martino Ruggieri, Cristiano Simone, Nicoletta Resta
Postzygotic mutations of the PIK3CA [phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha] gene constitutively activate the PI3K/AKT/mTOR pathway in PIK3CA-related overgrowth spectrum (PROS) patients, causing congenital mosaic tissue overgrowth that even multiple surgeries cannot solve. mTOR inhibitors are empirically tested and given for compassionate use in these patients. PROS patients could be ideal candidates for enrolment in trials with PI3K/AKT pathway inhibitors, considering the "clean" cellular setting in which a unique driver, a PIK3CA mutation, is present...
March 16, 2018: Neurogenetics
Dorit Schöller, Marieke Hölting, Diana Stefanescu, Helen Burow, Birgitt Schönfisch, Katharina Rall, Florin-Andrei Taran, Grigoris F Grimbizis, Attilio Di Spiezio Sardo, Sara Y Brucker
PURPOSE: Several classification systems for female genital tract anomalies exist but are of limited use in clinical practice. We, therefore, assessed the applicability and ease of use of the new ESHRE/ESGE classification, using only patient records. METHODS: This retrospective, single-center, proof-of-principle study systematically analyzed the surgical reports and other hospital records of 920 inpatients and outpatients treated for confirmed female genital tract congenital malformations at a major German university hospital during 2003-2013...
March 16, 2018: Archives of Gynecology and Obstetrics
Prateek Bhatnagar, Shubhi Bhatnagar
Mesocardia is an extremely rare congenital cardiac anomaly of counter clockwise rotation of the heart. We report here a case of coronary artery bypass grafting in mesocardia, which has not been described in medical literature earlier. A 52 years male suffered an anterior wall myocardial infarction. Chest X Ray, 2 D Echocardiography and computed tomography of chest confirmed the presence of mesocardia. Off pump total arterial revascularization was done. Exposure of aorta and right atrium through the standard median sternotomy is very difficult in mesocardia due to cardiac rotation and should be kept in mind in this surgery...
March 13, 2018: Annals of Thoracic Surgery
Olga M Pavlova, Sergey O Ryabykh, Alexander V Burcev, Alexander V Gubin
STUDY DESIGN: Case series, level 4 of evidence. OBJECTIVES: To analyze clinical and radiological features of pathological atlantoaxial displacement (PAAD) in pediatric patients. To compose treatment algorithm for anomaly-related PAAD. SUMMARY OF BACKGROUND DATA: Criteria of different types of PAAD and treatment algorithms have been widely reported in the literature, but difficulty applicable in patients with odontoid abnormalities, C2-C3 block, spina bifida C1 and children...
March 13, 2018: World Neurosurgery
Narayanam Anantha Sai Kiran, Veldurti Ananta Kiran Kumar, Laxminadh Sivaraju, Valluri Anil Kumar, Chintakunta Rajesh Reddy, Amit Agrawal
BACKGROUND: Aberrant medial retropharyngeal prevertebral course of internal carotid arteries (ICAs) is extremely uncommon. In oropharyngeal surgeries like trans oral odontoidectomy (TOO) this unrecognized aberrant retropharyngeal course of ICAs can result in devastating complications secondary to inadvertent injury of ICAs. Authors describe this aberrant course of ICAs in a patient with craniovertebral junction (CVJ) anomaly with dysmorphic C1 lateral mass on one side and discuss in detail various management issues in this complex case...
March 12, 2018: World Neurosurgery
John S Wiener, Dominic C Frimberger, Hadley Wood
Until recently, spina bifida has been regarded a pediatric health issue, and adult consequences of the disorder have not been explored. The congenital neurologic and urologic anomalies, as well as sequelae of bladder management, can have a profound impact on adult male sexual function. Abnormalities in testicular descent, testicular development and function, fertility, penile sensation, erectile function, ejaculatory function, and orgasmic function are common in this population. These adults have substantial gaps in knowledge in normal sexual function and potential dysfunction as it relates to them specifically...
March 12, 2018: Urology
Rosa Roemers, Jolanda Kluin, Frederiek de Heer, Sara Arrigoni, Regina Bökenkamp, Joost van Melle, Tjark Ebels, Mark Hazekamp
OBJECTIVES: Supravalvar aortic stenosis (SVAS) is a rare congenital anomaly. The "single-patch technique," "'two sinus augmentation with an inverted Y-patch" (both nonsymmetrical corrections), "three-patch technique," and the "slide aortoplasty" (both symmetrical corrections) are the techniques implemented by the majority of surgeons for the correction of SVAS. In the few studies that compared these techniques, no technique was shown to be superior over another...
March 2018: World Journal for Pediatric & Congenital Heart Surgery
Rachel C Lombardo, Aleksey Porollo, James F Cnota, Robert J Hopkin
PurposeCongenital central hypoventilation syndrome (CCHS, OMIM 209880) is a rare autosomal dominant disorder caused by mutation in PHOX2B that manifests as a consequence of abnormal neural crest cell migration during embryogenesis. Unlike other neurocristopathies, however, its impact on the cardiovascular system has not been previously assessed. This study was an effort to characterize the association between congenital heart disease (CHD) and mutations in PHOX2B in patients with CCHS.MethodsA retrospective review of patients with CCHS in conjunction with functional analysis of PHOX2B mutations associated with CHD was performed...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Ibtessam R Hussein, Rima S Bader, Adeel G Chaudhary, Randa Bassiouni, Maha Alquaiti, Fai Ashgan, Hans-Juergen Schulten, Mohammad H Al Qahtani
Congenital heart defects (CHDs) are the most common birth defects in neonatal life. CHDs could be presented as isolated defects or associated with developmental delay (DD) and/or other congenital malformations. A small proportion of cardiac defects are caused by chromosomal abnormalities or single gene defects; however, in a large proportion of cases no genetic diagnosis could be achieved by clinical examination and conventional genetic analysis. The development of genome wide array-Comparative Genomic Hybridization technique (array-CGH) allowed for the detection of cryptic chromosomal imbalances and pathogenic copy number variants (CNVs) not detected by conventional techniques...
March 14, 2018: Pediatric Cardiology
F Popescu, C R Jaslow, W H Kutteh
STUDY QUESTION: Will the addition of 24-chromosome microarray analysis on miscarriage tissue combined with the standard American Society for Reproductive Medicine (ASRM) evaluation for recurrent miscarriage explain most losses? SUMMARY ANSWER: Over 90% of patients with recurrent pregnancy loss (RPL) will have a probable or definitive cause identified when combining genetic testing on miscarriage tissue with the standard ASRM evaluation for recurrent miscarriage...
March 12, 2018: Human Reproduction
Cristina Caciolo, Paolo Alfieri, Giorgia Piccini, Maria Cristina Digilio, Francesca Romana Lepri, Marco Tartaglia, Deny Menghini, Stefano Vicari
BACKGROUND: Kabuki syndrome (KS) is a disorder characterized by multiple congenital anomalies affecting development and function of multiple systems. Over the years, researchers have attempted to characterize the neurobehavioral phenotype of KS in cohorts of patients enrolled on the basis of clinical assessment. The availability of molecular testing now allows for recruitment of patients with confirmed KS due to KMT2D and KDM6A. METHODS: The aims of the present study were to investigate the neuropsychological and behavioral profiles of individuals with molecularly confirmed diagnosis of KS, and determine the extent of heterogeneity occurring in these profiles between individuals with clinical diagnosis of KS with and without mutations in KMT2D...
March 13, 2018: Molecular Genetics & Genomic Medicine
Joseph B Cantey, Kelsey R Anderson, Ram R Kalagiri, Lea H Mallett
BACKGROUND: Coagulase-negative staphylococci (CoNS) are the most common cause of late-onset sepsis in the neonatal intensive care unit (NICU) and usually require vancomycin treatment. Our objective was to determine whether CoNS are associated with neonatal morbidity and mortality. METHODS: This was a retrospective cohort study of very-low-birth-weight (VLBW, ≤ 1500 g) infants from 1989 to 2015. Exclusion criteria were major congenital anomaly or death within 72 h...
March 13, 2018: World Journal of Pediatrics: WJP
Mehdi Zarrei, Geoffrey G Hicks, James N Reynolds, Bhooma Thiruvahindrapuram, Worrawat Engchuan, Molly Pind, Sylvia Lamoureux, John Wei, Zhouzhi Wang, Christian R Marshall, Richard F Wintle, Albert E Chudley, Stephen W Scherer
Fetal alcohol spectrum disorder (FASD) is characterized by a combination of neurological, developmental, and congenital defects that may occur as a consequence of prenatal alcohol exposure. Earlier reports showed that large chromosomal anomalies may link to FASD. Here, we examined the prevalence and types of copy number variations (CNVs) in FASD cases previously diagnosed by a multidisciplinary FASD team in sites across Canada. We genotyped 95 children with FASD and 87 age-matched, typically developing controls on the Illumina Human Omni2...
March 13, 2018: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
Esra Ozkavukcu, Andelib Babaturk, Nuray Haliloglu, Tuncay Yuce, Tayfun Ucar
Congenital aneurysms and diverticula of the heart are rare anomalies and their prenatal diagnosis is challenging. Fetuses with suspected cardiac aneurysms on ultrasound (US) screening should undergo targeted fetal echocardiography, postnatal imaging, and follow-ups. Herein, we describe the second trimester US scan and postnatal cardiac magnetic resonance imaging (MRI) findings of a baby girl with concurrent septal and right ventricular cardiac aneurysms. Other cardiac and extra-cardiac structures were normal...
February 2018: Eurasian Journal of Medicine
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