Meckel's Syndrome (www.whonamedit.com) Also known as GruberMeckel syndrome,meckel-gruber syndrome,GruberÂ’s syndrome,vonHippel-Lindau syndrome,SimopoulosÂ’ syndrome. http://www.whonamedit.com/synd.cfm/2055.html
Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A lethal malformation complex characterised by occipital encephalocele, polycystic kidneys, polydactyly, microcephaly, microphthalmia, clefted palate, cataracts, congenital heart defect, genital anomalies, abnormal facies, and polycystic degeneration of the kidneys, liver, and pancreas. Polydactyly, the most common skeletal feature, involves all four limbs and presents hexadactyly, heptodactyly, or even a greater number of digits. Anencephaly and/or agenesis or hypoplasia of the cerebellum may occur. Death occurs within days or weeks. Aetiology unknown. Prevalent in females; present from birth. Inheritance is autosomal recessive, parental consanguinity occurring in some cases.
Glossary In Congenital Malformations NeuroLearn NeuroHelp meckelgruber syndrome (Meckel syndrome) Autosomal recessive and is lethal . Definition of meckel-gruber syndrome cystic kidney dysplasia plus at http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNG0BS01-M.htm
Extractions: Glossary in Congenital Malformations NeuroLearn NeuroHelp Malformations General ... Z General #Malformation: a morphological defect, including absence, of an organ, or larger region of the body resulting from an intrinsically abnormal developmental process. #Marcus-Gunn phenomenon (jaw-winking) this is a congenital phenomenon that is characterized by elevating or drooping eyelids associated with jaw movement, smilling, swallowing, or speaking; can be acquired or congenital. It is thought to be due to misconnection between the third and fifth, and other cranial nerves. See also anormalous axonal connection (guidance) syndromes, #Macrocephaly (megalocephaly): excessive occipitofrontal circumference without regard to cause or brain size. #Membranis reuniens dorsalis of von Recklinghausen: During closure of the vertebral column, the dorsal part of the spinal cord is first composed of a mass of connective tissue and cartilage. The two lateral processes grow medially and eventually fuse. The membranis renuiens dorsalis of von Recklinghausen is the deepest part of this tissue mass that separates the spinal cord from the overlying connective tissue and epithelium. #Meningocele: Herniation of the meninges through a defect in the cranium or vertebral column.
IACP-Pathology Quiz C. meckelgruber syndrome. D. Aicardi syndrome. E. Cowden syndrome. 11. Which ofthe following syndromes are not associated with increased risk for http://moon.ouhsc.edu/kfung/IACP-OLP/APAQ-Text/N1-TU-01.htm
Extractions: Pathology Quiz On Pediatric Brain Tumors Kar-Ming Fung, M.D., Ph.D. Department of Pathology, University of Oklahoma Health Science Center Last update: April 30, 2005 Number of questions: 26 PDF File Each question has only one answer. Click on these thumbnails to go to the questions with these images: 1. Which of the following(s) is(are) true about childhood meningiomas? Answer They are more likely to behave more aggressive and recur more frequently. They are associated with neurofibromatosis 2 (NF2). They are more likely to be found at infratentorial, intraventricular, or intraparenchymal locations. Meningioms are common tumors in infants and children. A. 1, 2, and 3 are true. B. 1 and 3 are true. C. 2 and 4 are true. D. Only 4 is true. E. All of the above. . This primary cerebral tumor was removed from an 18 month-old boy. The most likely diagnosis is: Answer A. Ependymoma. B. Choroid plexus papilloma C. Pilomyxoma astrocytoma. D. Medulloepithelioma. E. Medulloblastoma.
Oral-Facial-Digital Syndrome, Type I meckelgruber syndrome. Etiology. genetic. Tissue of Origin. embryonic tissue.Main Pathologic Process. developmental. Treatment. genetic counseling http://www.dental.mu.edu/oralpath/lesions/oralfacialdigital/oralfacialdigital.ht
Extractions: Clinical Features: prenatal, birth or later after polycystic kidney disease is identified occurs only in females oral anomalies: lobed tongue, hamartomas or lipomas of the tongue, cleft of the hard or soft palate, accessory gingival ferrule, hypodontia and other dental abnormalities facial anomalies: (ocular hypertelorism or telecanthus, hypoplasia of the alae nasi, median cleft or pseudocleft upper lip, and micrognathia digital anomalies: brachydactyly, syndactyly of varying degrees, and clinodactyly of the fifth finger; duplicated hallux [great toe]; preaxial or postaxial polydactyly of the hands central nervous system and urinary system are affected possible mild mental retardation Differential Diagnosis: oral-facial-digital syndrome type I oral-facial-digital syndrome types II, III, IV, V, VI, IX
Meckel Syndrome Meckel syndrome is a rare inherited disorder characterized by DysencephaliaSplanchnocystica; Gruber Syndrome; meckelgruber syndrome; MES; MKS http://www.bchealthguide.org/kbase/nord/nord661.htm
Extractions: It is possible that the main title of the report Meckel Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Meckel syndrome is a rare inherited disorder characterized by abnormalities affecting several organ systems of the body (multisystem). Three classic symptoms are normally associated with Meckel syndrome: protrusion of a portion of the brain and its surrounding membranes (meninges) through a defect in the back or front of the skull (occipital encephalocele), multiple cysts on the kidneys (polycystic kidneys), and extra fingers and/or toes (polydactyly). Affected children may also have abnormalities affecting the head and face (craniofacial area), liver, lungs, and genitourinary tract. Meckel syndrome is inherited as an autosomal recessive trait. Genetic Alliance
Meckel Syndrome Dysencephalia Splanchnocystica; Gruber Syndrome; meckelgruber syndrome; MES;MKS. Disorder Subdivisions. Meckel Syndrome Type 1; Meckel Syndrome Type 2 http://my.webmd.com/hw/raising_a_family/nord661.asp
Extractions: Meckel syndrome is a rare inherited disorder characterized by abnormalities affecting several organ systems of the body (multisystem). Three classic symptoms are normally associated with Meckel syndrome: protrusion of a portion of the brain and its surrounding membranes (meninges) through a defect in the back or front of the skull (occipital encephalocele), multiple cysts on the kidneys (polycystic kidneys), and extra fingers and/or toes (polydactyly). Affected children may also have abnormalities affecting the head and face (craniofacial area), liver, lungs, and genitourinary tract. Meckel syndrome is inherited as an autosomal recessive trait.
Extractions: Home Site map Regional Sites Advanced Product Search ... Smith's Recognizable Patterns of Human Malformation Book information Product description Audience Author information and services Ordering information Bibliographic and ordering information Book related information Submit your book proposal Other books in same subject area About Elsevier Select your view SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION The completely revised and updated New Edition of this definitive text?now in full color! Long known as the source to consult for guidance on diagnosis, prognosis, plan management, and genetic counseling, this easy-to-use reference focuses on the patterns of human defects caused by inborn errors in morphogenesis as opposed to defects caused by mechanical problems. It provides a wealth of information on normal and abnormal morphogenesis * minor anomalies and their relevance * clinical approaches to specific diagnoses * and normal standards of measurement for the entire spectrum of disorders. Each chapter includes a description of the specific abnormality?including occasional associated abnormalities?natural history, etiology, and references. On opposing pages are several descriptive photographs and line drawings of either an individual with the abnormality or specific features of the abnormality.
%249000 MECKEL SYNDROME, TYPE 1; MKS1 DYSENCEPHALIA SPLANCHNOCYSTICA GRUBER SYNDROME meckelgruber syndrome The meckel-gruber syndrome was the most frequently identified specific syndrome. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:249000] -e
%603194 MECKEL SYNDROME, TYPE 2; MKS2 AhdabBarmada, M.; Claasen, D. A distinctive triad malformations of the centralnervous system in the meckel-gruber syndrome. J. Neuropath. Exp. Neurol. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:603194] -e
British Library Direct: Order Details Order from the British Library Distribution of myofibroblastic cells in theliver and kidney of meckelgruber syndrome Pathology International. http://direct.bl.uk/research/50/57/RN141939737.html
Extractions: This is an article from British Library Direct, a new service that allows you to search across 20,000 journals for free and order full text using your credit card. Article details Article title Distribution of myofibroblastic cells in the liver and kidney of Meckel-Gruber syndrome Author Kuroda, N. Ishiura, Y. Kawashima, M. Miyazaki, E. Hayashi, Y. Enzan, H. Journal title PATHOLOGY INTERNATIONAL Bibliographic details 2004, VOL 54; NUMBER 1, pages 57-62 Publisher Blackwell Publishing Ltd Country of publication Australia ISBN ISSN Language English Pricing To buy the full text of this article you pay:
Extractions: This Article Order Full text via Infotrieve Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Nyberg, D. A. Articles by Hickok, D. D. A. Nyberg, D. Hallesy, B. S. Mahony, J. H. Hirsch, D. A. Luthy and D. Hickok Department of Ultrasound, Swedish Hospital Medical Center, Seattle, Washington. Prenatal sonographic findings are reported in six fetuses with the Meckel-Gruber syndrome to illustrate the variety of sonographic findings associated with this disorder and to emphasize the importance of prenatal sonography in helping to establish the correct diagnosis. All six fetuses demonstrated evidence of renal cystic dysplasia. In five cases the kidneys were large and echogenic, demonstrating small discrete cysts in the range
Meckel Syndrome It is possible that the main title of the report Meckel Syndrome is not the name Dysencephalia Splanchnocystica; Gruber Syndrome; meckelgruber syndrome http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord661
NeLH - Clinical Genetics defects may also be part of a congenital malformation syndrome, such asmeckelgruber syndrome. meckel-gruber syndrome is characterised by a triad of http://libraries.nelh.nhs.uk/genepool/viewResource.asp?uri=http://libraries.nelh
Definitions Of Genetic Disorders-M. Meckel Syndrome meckel.htm meckelgruber syndrome meckel.htm Median Cleft FaceSyndrome fnd.htm Mediterranean Anemia thalass.htm http://www.icomm.ca/geneinfo/def-m.htm
Portal Toolkit Invalid Site URL conditions such as Ellis van Creveld syndrome, meckelgruber syndrome, 12 weeks 9 to confirm the diagnosis of meckel-gruber syndrome immediately http://ppv.ovid.com/pt/re/ajog/fulltext.00000447-199408000-00040.htm
Portal Toolkit Invalid Site URL A diagnosis of meckelgruber syndrome was made at 11 weeks menstrual age byvisualizing postaxial polydactyly and an occipital encephalocele. http://ppv.ovid.com/pt/re/ajog/abstract.00000447-199305000-00037.htm
MAPPING SAUDI ARABIA FOR Down syndrome. 1. Polydactyly. 1. Encephalocele. meckelgruber syndrome. 2.Imperforate anus with hypospadias. 1. Right inguinal hernia with hypoplastic http://www.kfshrc.edu.sa/annals/211_212/00-215.htm
Extractions: I have recently had 2 pregnancies result in very unhealthy babies which did not survive. The autopsy findings suggest the possibility of Meckel-Gruber syndrome, hover it is not a clinical case of Meckel. I am desperatly looking for more research on Meckel/ more opions on wether this diagnose could be more accurate. Please help me or guide me in another direction. I am desperate to know as much as I possibly can. Gratefully, Apparent patient location: USA *** PLEASE, REPLY TO HUMAN MOLECULAR GENETICS DIRECTLY ***( gambacorti@icil64.cilea.it
MUMS List Of Disorders - M MELAS Mitochondrial Encephalopathy Lactic Acidosis Syndrome (7) *; Macrocephaly (large Measles Vaccine (bad reaction) (9) *; meckelgruber syndrome (2) http://www.netnet.net/mums/mum_m.htm
Extractions: indicates there is a support group which covers that diagnosis. MELAS Mitochondrial Encephalopathy Lactic Acidosis Syndrome (7) * Macrocephaly (large head) (29) http://www.macrocephaly-cmtc.com/ Macrodactyly (Large toes or fingers) (2) Macroglossia (6) Macrosomia (abnormally large body) (2) Macular Degeneration (4) * Macular Degeneration (Infantile) * Male Pseudohermaphroditism (2) * Malignant Atrophic Papulosis(Degos disease) www.degosdisease.com Malignant Hyperthermia (12) * Malrotation of the Intestines (31) Mandibuloacral Dysplasia(Craniomandibular Dermatodysostis) (3) Manic Depression, Bipolar (64) * Manic Depressive Schizophrenia (19) * Mannosidosis (Glycogen Storage) (4)** Maple Syrup Urine Disease (7) * Marcus Gunn Phenomenon (Jaw Winking) (3) Marden-Walker Syndrome (7) Marfan Syndrome (12) * Marinesco-Sjogren Syndrome (1) www.marinesco-sjogren.org Marshall-Smith Syndrome (1) Mast Cell Disease (Urticaria Pigmentosa) (9) Mastocytosis (Urticaria Pigmentosa) (9) www.mastokids.org
