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https://www.readbyqxmd.com/read/28637118/asymptomatic-chiari-type-i-malformation-should-patients-be-advised-against-participation-in-contact-sports
#1
Robert Spencer, Paul Leach
BACKGROUND: Chiari type I malformation (CM-I) is characterised by caudal displacement of the cerebellar tonsils through the foramen magnum, crowding the craniocervical junction. It is being increasingly diagnosed in asymptomatic patients due to the widespread availability of MRI, and there are case reports of these patients suffering sudden death or neurological injury following head or neck trauma, raising the issue of whether they should be prohibited from contact sport participation, given the likelihood of frequent trauma...
March 2, 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/28635420/the-most-common-comorbidities-in-dandy-walker-syndrome-patients-a-systematic-review-of-case-reports
#2
Emelina Stambolliu, Myrsini Ioakeim-Ioannidou, Kimonas Kontokostas, Maria Dakoutrou, Antonis A Kousoulis
OBJECTIVE: Dandy-Walker syndrome (DWS) is a rare neurologic multi-entity malformation. This review aimed at reporting its main nonneurologic comorbidities. METHODS: Following PRISMA guidelines, search in Medline was conducted (2000-2014, keyword: dandy-walker). Age, sex, country, DWS type, consanguinity or siblings with DWS, and recorded coexistent conditions (by ICD10 category) were extracted for 187 patients (46.5% male, 43% from Asia) from 168 case reports. RESULTS: Diagnosis was most often set in <1 year old (40...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28634753/fetal-cephaloceles-prenatal-diagnosis-and-course-of-pregnancy-in-65-consecutive-cases
#3
Jan Weichert, Friederike Hoellen, Martin Krapp, Ute Germer, Roland Axt-Fliedner, Andrea Kempe, Annegret Geipel, Christoph Berg, Ulrich Gembruch
PURPOSE: To scrutinize the characteristics of all cases with antenatally established diagnosis of cephalocele in two tertiary referral centers. METHODS: We retrospectively reviewed 65 cases diagnosed with cephaloceles and tabulated sonographic findings and autopsy recordings as well as medical charts of all survivors in terms of clinical outcome. RESULTS: The case notes of 65 fetuses were available for final analysis. Gestational age (GA) at diagnosis ranged from 10...
June 20, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28633736/klippel-trenauney-syndrome-with-axillary-hyperhidrosis
#4
Yeun Jina Lim, David Rosmarin, Giannoula Klement, Shiu-Chung Au
Klippel-Trenaunay syndrome (KTS) is a rare, clinically variable congenital disorder involving capillary malformations, soft tissue or bone hypertrophy, and venous malformations or varicose veins. We report a 28-year-old man who presented with a hypertrophic right arm as well as markedly increased ipsilateral axillary hyperhidrosis and erythematous patches on the back, chest, and arm. This case of KTS is unusual because our patient presented with a markedly increased unilateral axillary hyperhidrosis ipsilateral to the hypertrophic limb...
June 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28633269/stenting-and-reimplanting-disconnected-pulmonary-artery-in-tetralogy-of-fallot
#5
Harikrishnan K N Kurup, Giedrius Baliulis, Marcus P Haw, Joseph J Vettukattil
Tetralogy of Fallot with absent pulmonary valve syndrome (TOF/APV) is a rare congenital malformation. Although pulmonary artery (PA) anomalies have been observed in TOF, its association with disconnected PA is extremely rare. We report successful stenting of the disconnected left PA in a 3-year-old boy with TOF/APV followed by surgical reimplantation. The significance of this transcatheter intervention for guidance during surgery and the importance of visualizing a ductal stump on angiography as an indicator of disconnected PA are discussed...
July 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28632845/iris-malformation-and-anterior-segment-dysgenesis-in-mice-and-humans-with-a-mutation-in-pi-3-kinase
#6
Marie H Solheim, Allen C Clermont, Jonathon N Winnay, Erlend Hallstensen, Anders Molven, Pål R Njølstad, Eyvind Rødahl, C Ronald Kahn
Purpose: To determine the ocular consequences of a dominant-negative mutation in the p85α subunit of phosphatidylinositol 3-kinase (PIK3R1) using a knock-in mouse model of SHORT syndrome, a syndrome associated with short stature, lipodystrophy, diabetes, and Rieger anomaly in humans. Methods: We investigated knock-in mice heterozygous for the SHORT syndrome mutation changing arginine 649 to tryptophan in p85α (PIK3R1) using physical examination, optical coherence tomography (OCT), tonometry, and histopathologic sections from paraffin-embedded eyes, and compared the findings to similar investigations in two human subjects with SHORT syndrome heterozygous for the same mutation...
June 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28629784/-from-paediatric-urological-care-to-adult-urology-assessment-of-a-transition-consultation-for-adolescents
#7
L Even, S Mouttalib, J Moscovici, M Soulie, P Rischmann, X Game, P Galinier, O Bouali
To provide an adequate lifelong urological care in the complex period of adolescence, a transition consultation conducted by a paediatric surgeon and an urologist was developed in our institution. As a real rite of passage, it allows the follow-up and the adapted care of urological conditions, sometimes complex, and permits the transition between childhood and the world of grown-ups. We reported our experience at the Children Hospital of our institution (paediatric surgery and urology departments). During a 6 months period (January-July 2015), forty-five young adults with a mean age of 17...
June 16, 2017: Progrès en Urologie
https://www.readbyqxmd.com/read/28627093/characterization-of-thrombosis-in-patients-with-proteus-syndrome
#8
Kim M Keppler-Noreuil, Jay N Lozier, Julie C Sapp, Leslie G Biesecker
Patients with overgrowth and complex vascular malformation syndromes, including Proteus syndrome have an increased risk of thromboembolism. Proteus syndrome is a mosaic, progressive overgrowth disorder involving vasculature, skin, and skeleton, and caused by a somatic activating mutation in AKT1. We conducted a comprehensive review of the medical histories and hematologic evaluations of 57 patients with Proteus syndrome to identify potential risk factors for thrombosis. We found that six of ten patients, who were deceased, died secondary to deep venous thrombosis and/or pulmonary embolism...
June 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28627003/sonographic-screening-for-wilms-tumor-in-children-with-cloves-syndrome
#9
Caitlin M Peterman, R Dawn Fevurly, Ahmad I Alomari, Cameron C Trenor, Denise M Adams, Sophie Vadeboncoeur, Marilyn G Liang, Arin K Greene, John B Mulliken, Steven J Fishman
BACKGROUND: CLOVES syndrome is associated with somatic mosaic PIK3CA mutations and characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies. Wilms tumor (WT) is a malignant embryonal renal neoplasm associated with hemihypertrophy and certain overgrowth disorders. After identifying WT in a child with CLOVES, we questioned whether ultrasonographic screening was necessary in these patients. METHODS: We retrospectively reviewed patients with CLOVES syndrome in our Vascular Anomalies Center at Boston Children's Hospital between 1998 and 2016 to identify those who developed WT...
June 19, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28626825/phace-s-syndrome-report-of-a-case-with-new-ocular-and-systemic-manifestations
#10
Raheleh Assari, Vahid Ziaee, Sasan Moghimi, Mohammad Reza Akbari, Arash Mirmohammadsadeghi
PURPOSE: To describe an infant with PHACE(S) syndrome [posterior fossa anomalies (P), hemangiomas (H), arterial anomalies (A), cardiac abnormalities and coarctation of aorta (C), eye abnormalities (E), and the sternal defects (S)] with unusual strabismus, congenital glaucoma, and new systemic manifestations. METHODS: A 6-month-old girl was referred with large hemangiomas on the left side of the face. RESULTS: In the ocular examination, right esotropia and hypotropia, and limitation of elevation in adduction in the right eye were seen...
June 2017: Journal of Current Ophthalmology
https://www.readbyqxmd.com/read/28626108/-a-case-of-partial-deletion-of-the-long-arm-of-chromosome-7
#11
Lin Yang, Ying Cheng, Qian Lin, Hong Zhang
Partial deletion of the long arm of chromosome 7 is a rare disease and is prone to missing the diagnosis or being misdiagnosed. Here we present a case of a 13-year-old boy that showed symptoms such as growth-retardation, moderate intellectual disability, hypotelorism, microcephaly, epicanthal folds, genu varum and lumbar vertebral cleft, but it did not show serious symptoms like cleft lip, urogenital malformation and hypotonia. He was eventually diagnosed as partial deletion of the long arm of chromosome 7 syndrome through gene analysis...
May 28, 2017: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/28625504/mutations-in-armc9-which-encodes-a-basal-body-protein-cause-joubert-syndrome-in-humans-and-ciliopathy-phenotypes-in-zebrafish
#12
Julie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, Megan E Grout, Kimberly A Aldinger, Ranad Shaheen, Jennifer C Dempsey, Sateesh Maddirevula, Yong-Han H Cheng, Ian G Phelps, Matthias Gesemann, Himanshu Goel, Ohad S Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O Khan, Michael J Bamshad, Deborah A Nickerson, Stephan C F Neuhauss, William B Dobyns, Fowzan S Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan Doherty
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis. More than 35 genes have been associated with JS, but in a subset of families the genetic cause remains unknown...
June 14, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28624001/diagnosis-and-management-of-the-venous-malformations-of-klippel-tr%C3%A3-naunay-syndrome
#13
REVIEW
S Keisin Wang, Natalie A Drucker, Alok K Gupta, Francis E Marshalleck, Michael C Dalsing
OBJECTIVE: A dearth of information exists in the literature regarding current practice in the management of Klippel-Trénaunay syndrome (KTS), a rare condition. We review and describe the etiology, diagnosis, and treatment of KTS. METHODS: Relevant data were synthesized from a Medline review using a combination of the keyterms "Klippel" and "Trénaunay." The majority of hits described singular case reports and were subsequently excluded. The remaining papers were then reviewed and included on the basis of the quality of evidence and the authors' discretion...
July 2017: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/28623992/near-infrared-fluorescence-lymphatic-imaging-of-klippel-tr%C3%A3-naunay-syndrome
#14
John C Rasmussen, Rodrick C Zvavanjanja, Melissa B Aldrich, Matthew R Greives, Eva M Sevick-Muraca
The relationship between lymphatic and venous malformations in Klippel-Trénaunay syndrome is difficult to assess. Herein the authors describe near-infrared fluorescence lymphatic imaging to assess the lymphatics of a subject with a large port-wine stain and right leg edema. Although lymphatic vessels in the medial, affected knee appeared dilated and perhaps tortuous, no definitive abnormal lymphatic pooling or propulsion was observed. The lymphatics in the affected limb were well defined but less numerous than in the contralateral limb, and active, contractile function was observed in all vessels...
July 2017: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/28623672/craniosynostosis-recognition-clinical-characteristics-and-treatment
#15
REVIEW
Nina Kajdic, Peter Spazzapan, Tomaz Velnar
Craniosynostosis is a developmental craniofacial anomaly, resulting in impairment of brain development and abnormally shaped skull. The main cause of craniosynostosis is premature closure of one or more cranial sutures. It usually occurs as an isolated condition, but may also be associated with other malformations as part of complex syndromes. When left untreated, craniosynostosis can cause serious complications, such as developmental delay, facial abnormality, sensory, respiratory and neurological dysfunction, anomalies affecting the eye, and psychological disturbances...
June 17, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28623042/corneocyte-lipid-envelope-cle-the-key-structure-for-skin-barrier-function-and-ichthyosis-pathogenesis
#16
REVIEW
Masashi Akiyama
Research on the genetic abnormalities and pathogenetic processes of ichthyoses has progressed remarkably, and many causative genes and molecules have been identified in ichthyoses and ichthyosis syndromes. Most of the genes/molecules causative of ichthyosis are associated with the barrier function of the stratum corneum, and defects in the skin barrier play important roles in the pathogenesis of various ichthyosis phenotypes. It has been elucidated that, of the ichthyosis-causative genes, ABCA12, ALOXE3, ALOX12B, CYP4F22, CERS3, ABHD5, PNPLA1 and ELOVL4 work in the formation of the corneocyte lipid envelope (CLE), a structure that is essential to sound skin barrier function...
June 8, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28621423/roles-of-the-cilium-associated-gene-ccdc11-in-left-right-patterning-and-in-laterality-disorders-in-humans
#17
Michal Gur, Enbal Ben-Tal Cohen, Olga Genin, Abraham Fainsod, Zeev Perles, Yuval Cinnamon
Axial determination occurs during early stages of embryogenesis. Flaws in laterality patterning result in abnormal positioning of visceral organs, as manifested in heterotaxy syndrome, or complete left-right inversion as in situs inversus totalis. These malformations are often associated with ciliopathies, as seen in primary ciliary dyskinesia. We have recently described a novel mutation in the Coiled-Coil Domain-Containing 11 (CCDC11) gene associated with laterality disorders in a consanguineous family of Arab-Muslim origin with two affected siblings presenting with diverse phenotypes, one with heterotaxy syndrome and the other with non-primary ciliary dyskinesia situs inversus totalis...
2017: International Journal of Developmental Biology
https://www.readbyqxmd.com/read/28620746/uniparental-disomy-as-an-unexpected-cause-of-meckel-gruber-syndrome-report-of-a-case
#18
Nadia Ortiz Bruechle, Peter Steuernagel, Klaus Zerres, Ingo Kurth, Thomas Eggermann, Cordula Knopp
BACKGROUND: Meckel-Gruber syndrome (MKS, OMIM #607361) is a rare pre- or perinatal lethal autosomal recessive ciliopathy caused by mutations in at least 12 known genes. It has a clinical and genetic overlap with other viable ciliopathies, especially Joubert syndrome and Joubert syndrome-related disorders. MKS is characterized by multicystic kidney dysplasia, central nervous system malformations (usually occipital encephalocele), ductal plate malformation of the liver, and postaxial polydactyly...
June 15, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28619674/frontal-cranioplasty-in-fronto-metaphyseal-dysplasia
#19
A Joly, A Pare, D Goga, B Laure
INTRODUCTION: Fronto-metaphyseal dysplasia (FMD), also called Gorlin-Cohen syndrome, is a rare syndrome initially described in 1969 by Gorlin and Cohen. Patients present skeletal dysplasia, craniofacial malformations and digit abnormalities. Craniofacial phenotype of FMD is characterized by supraorbital hyperostosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge and micrognathia. Here we report the first adult case of craniofacial reconstruction with frontal cranioplasty in a patient with FMD...
June 12, 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28617243/fingertip-capillary-malformation-and-associated-disorders-report-of-9-cases
#20
Juan Carlos López-Gutiérrez, Pedro Redondo, Marta Ivars
Although capillary malformations (CMs) are not usually serious health problems in themselves, they can occasionally be warning signs for syndromes with more serious or aggressive vascular malformations not readily apparent at birth or on initial examination. We describe a series of 9 patients with a common phenotype: (1) CM on the fingertips; (2) associated combined vascular (lymphatic-venous) malformations on the trunk and/or extremities; and (3) in some cases, partial overgrowth and asymmetry of the extremities...
June 15, 2017: Pediatrics
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