81. :: Department Of Medical Genetics :: Oct 6, 2004, Dr. M. Innes, meckelgruber syndrome revisited. Oct 13, 2004, Dr.S. Shetty, Duplicons and Human Genomic Disorders. Oct 20, 2004, Dr. P. Bridge http://www.fp.ucalgary.ca/medicalgenetics/pages/seminars.html

Medical Genetics Seminars Our weekly seminars consist of clinical and research presentations and are held on Wednesdays from 9:00 - 10:00 a.m., the location alternating between Health Sciences Centre and the Alberta Children's Hospital. Guest speakers are invited to speak at our seminars several times a year. Date Speaker Topics Sept 14, 2005 Dr. J. Little Can we prevent orofacial clefts? Status of evidence on tobacco, folate and other vitamins Sept 16, 2005 (Friday) 9:15-10:15 am Dr. Z. Wszolek Joint rounds with Dept. of Clinical Neurosciences: Genetics of Parkinson's Disease

82. Faculty Of Biological Sciences Trembath, RC; Maher, ER; Johnson, CA, A novel locus for meckelgruber syndrome,MKS3, maps to chromosome 8q24 Human Genetics, 111, pp.456-461, 2002 http://www.fbs.leeds.ac.uk/People/staffprofilewithpubs.php?staff=RFM

83. Login Economides DL, 1995 First-trimester diagnosis of meckel-gruber syndrome by http://www.dimed.com/specialista/secure/database/docsmanager/dbidparam/1737.aspx

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84. OMIM Entry 603194 AhdabBarmada, M.; Claasen, D. A distinctive triad malformationsof the centralnervous system in the meckel-gruber syndrome. J. Neuropath.Exp. Neurol. http://www.hgmp.mrc.ac.uk/cgi-bin/wrapomim?603194

85. Hippel-Lindau Disease (www.whonamedit.com) HippelLindau disease A syndrome characterised by angiomatosis of the The term von Hippel-Lindau syndrome has been used as a synonym for meckel-gruber http://www.whonamedit.com/synd.cfm/2057.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. 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 recommendation: Hypography is an open community about science and all things related Hippel-Lindau disease Also known as: Von Hippel-Lindau disease Hippel's disease Hippel's syndrome Hippel-Czermak syndrome Hippel-Lindau disease Lindau's disease Lindau's tumour von Hippel-Lindau syndrome Lagleyze-von Hippel disease Synonyms: Angiomatosis retinae, angiomatosis retinae cystica, angiophacomatosis, angioreticuloma cerebelli, cerebello retina angiomatosis, cerebelloretinal haemangioblastomatosis, cerebroretinal syndrome, haemangioblastomatosis, hereditary haemangiomatosis of the central nervous system, retinal angiomatosis, retinal capillary hamartoma, retinocerebral angiomatosis, viscerocystic retinoangiomatosis syndrome. Associated persons: Johann Nepomuk Czermak Eugen von Hippel Pedro Lagleyze Arvid Vilhelm Lindau Description: A syndrome characterised by angiomatosis of the retina, haemangioblastoma of the cerebellum and walls of the fourth ventricle, commonly associated with polycystic lesions of the kidney and pancreas. Inheritance is autosomal dominant with variable clinical expression. Very long list of ocular features. The syndrome is transmitted as an autosomal dominant trait with varying expression, the symptoms not being apparent until the third decade of life.

86. EMedicine - Supernumerary Digit : Article By Carter G Abel, MD Meckel Gruber syndrome Short rib polydactyly Ellis van Creveld syndrome PallisterHallsyndrome Acrocallosal syndrome McKusick-Kaufman syndrome http://www.emedicine.com/derm/topic692.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases Supernumerary Digit Last Updated: January 30, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: rudimentary polydactyly, digital duplication AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Differentials ... Bibliography Author: Carter G Abel, MD , Clinical Assistant Attending, Department of Dermatology, New York Presbyterian Hospital Coauthor(s): Denise M McCarthy, MD , Associate Professor, Department of Radiology, Morristown Memorial Hospital Carter G Abel, MD, is a member of the following medical societies: American Academy of Dermatology American College of Mohs Micrographic Surgery and Cutaneous Oncology American Society for Dermatologic Surgery , and Medical Society of New Jersey Editor(s): Albert C Yan, MD

87. TheFetus.net - Meckel Gruber Syndrome-Marcos Velasco Sanchez, MD Comprehensive guide to prenatal ultrasound. Covers all aspects of sonography inpregnancy and the fetus. http://www.thefetus.net/page.php?id=1532

88. Article : Antenatal Sonographic Diagnosis Of Patau Syndrome (Trisomy 13): A Case The main differential diagnosis of Trisomy 13 is Meckel gruber syndrome becauseof the similarity of the findings polydactyly, neural tube defects http://www.ijri.org/articles/ARCHIVES/2004-14-2/obstetric imaging165.htm

Obstetric Imaging Antenatal Sonographic Diagnosis of Patau syndrome (Trisomy 13): A case report SV Phatak, V Tule, MS Phatak, PK Kolwadkar Ind J Radiol Imag 2004 14:2:165-167 Key Words: Patau Syndrome, antenatal ultrasound Introduction Incidence of Patau syndrome (Trisomy 13) is 1/5000 births and it is the most severe of the three autosomal trisomies that can lead to live born infants. (1) This syndrome is characterized by multiple congenital anomalies involving virtually every organ system (2). Neonates with trisomy 13 die usually within the first few hours or days of life. Eighty percent of the affected babies die within first month of life. (3) The rare survivors have profound mental retardation and seizures(1) Those with trisomy 13 mosaicism may have a less severe clinical picture and survival is usually longer (2). Fig 1a) USG Short femur in Case Report A twenty six year old Second gravida presented for Sonography, as uterine fundal height was more than expected period of gestation. History of anomalous child in last pregnancy with short limbs was given, who died within few hours. During Sonography polyhydramnios was noted. Limbs were short particularly proximal parts of limbs, with evidence of polydactyly and bilateral clubfeet. Fibula was absent in one leg. Bilateral enlarged echogenic kidneys were seen in abdomen. Placenta was thick. Umbilical cord showed three vessels. Four-chamber view of heart was normal. No echogenic foci were seen in heart. Cleft lip was present which was not diagnosed in sonographic examination. Previous history of anomalous child, polyhydramnios, Echogenic enlarged kidneys, bilateral clubfeet and skeletal anomalies indicated possibility of chromosomal abnormality. Patient opted for termination of pregnancy. Karyotype study confirmed Patau syndrome.

89. Indian Pediatrics - Editorial Fibrosis of the Liver in Meckel Gruber syndrome Of these one neonate withMeckel Gruber syndrome comprising the typical triad of polycystic kidneys, http://www.indianpediatrics.net/nov2001/nov-1325-1326.htm

Home Past Issue About IP About IAP ... Subscription Letters to the Editor Indian Pediatrics 2001; 38: 1325-1326 Fibrosis of the Liver in Meckel Gruber Syndrome Kumar and co-workers in their article titled "autosomal recessive polycystic kidney disease with congenital fibrosis and encephalocele" state that congenital hepatic fibrosis has not been reported with Meckel Gruber syndrome(1). However we wish to emphasize that fibrosis of the liver has been reported in this syndrome, although the association is not a constant feature(2-4). The liver will be abnormally firm in consistency. Microscopy shows portal tracts expanded by fibrosis. Sometimes the portal tracts link up to form more extensive fibrous tracts(2). This appearance is similar to that seen in congenital hepatic fibrosis associated with autosomal recessive polycystic kidney disease(2). The macroscopic appearance of the kidneys in infantile polycystic kidney disease and Meckel Gruber syndrome are also similar. In both conditions there is reniform enlargement of the kidneys with small cysts being visible through the renal capsule(5). Thus the discriminating feature between the two conditions will be the presence of posterior encephalocele and polydactyly which have not been described in autosomal recessive polycystic kidney disease. There-fore we feel that the case described by Kumar and coworders(1) is more likely to be an example of Meckel Gruber syndrome, as the infant had an encephalocele. Distinguishing between these two lethal conditions however is somewhat academic as both conditions are inherited as autosomal recessive and therefore have a similar recurrence risk.

90. Indian Pediatrics - Editorial Meckel Gruber syndrome is characterized by encephalocele, Both infantilepolycystic kidney disease and Meckel Gruber syndrome are inherited as autosomal http://www.indianpediatrics.net/nov2001/nov-1326-1327.htm

Home Past Issue About IP About IAP ... Subscription Letters to the Editor Indian Pediatrics 2001; 38: 1326-1327 Reply Surendra Kumar, Vishnu Bhat, Department of Pathology and Pediatrics, JIPMER, Pondicherry, India. References 1. Brown JK, Minas RA. Disroder of the central nervous system. In: Forfar and Arneil’s Text-book of Pediatrics, 5th edn. Eds. Campbell AGM, Macintosh N, New York, Churchill Livingstone, 1998; pp 641-846. 2. Shephard B, Kupke KG. Genetics of common problems presenting in the newborn. In: Avery’s Diseases of the Newborn, 7th edn. Eds. Taeusch HW, Ballard RA. Philadelphia, W.B. Saunders Co. 1998; pp 200-208. 3. Blyth H, Ockenden BG. Polycystic disease of kidneys and liver presenting in childhood. J Med Genet 1971; 8: 257-284. Home Past Issue About IP About IAP ... Subscription

91. Neural Tube Defects Spina Bifida P Meckel Gruber Dysencephalia Splanchnocystica syndrome Ukrainian MeckelGruber syndrome Fact Sheet for Health Professionals http://ibis-birthdefects.org/start/ntdfact.htm

Report Broken Links Exchange Banners Contact Us Neural Tube Defects (NTD) - Anencephaly - Spina Bifida See I.B.I.S in English Spanish Russian Ukranian Search Neural Tube Defects (NTD)- Anencephaly - Spina Bifida Page Includes: Anencephaly Encephalocele Folic Acid or FA Hydrocephalus ... Support groups [*] Outstanding [P] For Professionals [S] Support Group [French] [Spanish] [Ukrainian] [*][P] Folic Acid for the Prevention of Neural Tube Defects Policy Statement - American Academy of Pediatrics (1993). "NTDs are among the most common birth defects that result in infant mortality and serious disability ..." Knowledge and Use of Folic Acid by Women of Childbearing Age (Requires Acrobat Reader) JAMA Women's Health and MMWR report. Results of the 1998 March of Dimes Birth Defects Foundation sponsored Gallup Organization survey of 2115 women. Folic Acid National Campaign - CDC, March of Dimes ... National Campaign on Folic Acid - Gate Page Folic Acid for Healthy Babies Prevention Model and Resource Guide NTD - Frequently asked Questions " ... how can women get folic acid? ... " [Spanish] Forma para solicitar materiales educativos...

92. Reproductive Genetics Program-Family Studies Large vestibular aqueduct syndrome Meckel Gruber syndrome Microcephaly Neural tube defects Neuroecthyosis Neurofibromatosis variants Ondine s curse http://www-medlib.med.utah.edu/reprogen/family.html

Family Studies FAMILY STUDIES: Principal Investigator: Ken Ward, M.D. Research Coordinator: Lori Kaumans DNA is the instruction manual from which each individual is built. There are three billion distinct pieces of information in each set of these instructions. While there are hundreds of millions of differences in the genetic coding of unrelated people, the coding among relatives has more similarities. Family studies, then, is the comparison of DNA among relatives to determine what similarities or differences there are. By noting recurrent patterns that relatives share, the genetic basis for traits (such as twinning) or disease (such as hemophilia) can often be discerned. The work accomplished through family studies is at the very core of the research and discovery taking place at the Reproductive Genetics Program, for it is only by finding the genetic pathway of a disease that we can begin looking toward its treatment and ultimate cure. To do this, a large number of samples from which DNA must be extracted, collected and analyzed are needed. The samples come voluntarily from members of large families who share a genetic trait or disease. We in Reproductive Genetics are fortunate to find ourselves in the midst of a unique population that is particularly amenable to genetic research of this order. Utah has the highest birth rate in the country; large families tend to remain in the region for generations. In addition, a large number of Utah's citizens keep extensive genealogical records that may date back hundreds of years. We have found an unprecedented receptiveness to scientific research in this environment..

93. Rare Diseases Terms - Office Of Rare Diseases GARD can be reached at 888205-2311, 888-205-3223 (TTY), or by e-mail GARDinfo@nih.gov.Disease, Meckel syndrome type1. Synonyms, Meckel Gruber syndrome http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=3436

94. Research Findings Register: Summary Number 425 cerebral palsy, Alstrom s syndrome, inborn errors of metabolism, MeckelGrubersyndrome, Aicardi syndorme, Bardet-Biedl syndorme, Fraser syndrome, http://www.refer.nhs.uk/ViewRecord.asp?ID=425

95. Dysmorphology Diagnosis Puri RD, Verma IC - Indian J Pediatr FragileX syndrome is the next common genetic cause of mental retardation. of a monogenic syndrome (acrocallosal syndrome, Meckel Gruber syndrome), http://www.ijppediatricsindia.org/article.asp?issn=0019-5456;year=2004;volume=71

96. Love Never Dies meckelgruber.org Join Date January 25, 2002 The official website for meckel-gruberSyndrome. Offering informative links, support, information, http://www.ringsurf.com/?action=addform&ring=honeybunrest

97. Prof. Dr. Fulya Teksen Dignosis of Meckel Gruber syndrome and DandyWalker Malformation in four affected.consecutive siblings, the fourth one diagnosed at 22 week’ of gestation. http://www.health.ankara.edu.tr/teksen-i.html

fteksen@hotmail.com Curriculum Vitae Profession: Head of Division, Professor Date of Birth: 07 December 1958 Marital Status: Married Nationality: Turkish Institution: Ankara University, Faculty of Health Education Basic Health Science Department Languages: English (Fluent both written and oral), French (Very little) Work Experince : A.U Biotechnology Institute (Lecturer) : A.U Faculty of Dentistry ( Lecturer) : A.U Faculty of Health Education, Chairmen of Basic Health Science Department, Associate Professor, Professor : A.U Faculty of Health Education, Basic Health Science Dept., Associate Professor : A.U Faculty of Medicine, Obstetrics and Gynecology Dept. Prenatal Diagnosis Laboratory (Charged for the establishment of the Laboratory- Specialist-Associate Professor) : A.U Dörtyol Health Services Vocationel School, Lecturer

98. A Short History Of Amniocentesis, Fetoscopy And Chorionic Villus Sampling the clinical application of the procedure in 1993 and reported the earlyprenatal diagnosis of a case of Meckel Gruber syndrome using this technique. http://www.ob-ultrasound.net/amniocentesis.html

A short History of Amniocentesis, Fetoscopy and Chorionic Villus Sampling Dr. Joseph Woo Amniocentesis Tapping of amniotic fluid had been practised for over a 100 years although many cases had not been recorded. In the literature, transabdominal amniocentesis in the third trimester has been reported by Prochownick, Von Schatz and Lambl in and Schatz in the s. In there was a report from Hinkel describing release of amniotic fluid from a patient with polyhydramnios. Menees et. al. reported in removal of amniotic fluid by transabdominal needling. Radio-opaque contrast was injected to outline the fetus and placenta. Bevis in obtained samples of liquor by abdominal paracentesis, at two-weekly intervals, in the management of rhesus isoimmunized patients, and to predict the gravity of the condition. Liley in Auckland, New Zealand in published the well-known correlation between the deviation of the spectral absorption curve of liquor amnii resulting from bilirubin, and the severity of rhesus isoimmunization. Since Liley's studies, the practice of amniocentesis had become a standard procedure in Obstetric practice. The first use of amniotic fluid examination in the diagnosis of genetic disease was reported by Fuchs and Riis in in their seminal article in " Nature ". They determined

99. ICD-10: Block Q00-Q07 Q02, Microcephaly. Hydromicrocephaly Micrencephalon. Excludes, MeckelGrubersyndrome ( Q61.9 ). Q03, Congenital hydrocephalus http://www3.who.int/icd/vol1htm2003/gq00.htm

Chapter XVII Congenital malformations, deformations and chromosomal abnormalities Congenital malformations of the nervous system Anencephaly and similar malformations Anencephaly Acephaly Acrania Amyelencephaly Hemianencephaly Hemicephaly Craniorachischisis Iniencephaly Encephalocele Includes: encephalomyelocele hydroencephalocele hydromeningocele, cranial meningocele, cerebral meningoencephalocele Excludes: Meckel-Gruber syndrome Frontal encephalocele Nasofrontal encephalocele Occipital encephalocele Encephalocele of other sites Encephalocele, unspecified Microcephaly Hydromicrocephaly Micrencephalon Excludes: Meckel-Gruber syndrome Congenital hydrocephalus Includes: hydrocephalus in newborn Excludes: Arnold-Chiari syndrome hydrocephalus: Malformations of aqueduct of Sylvius Aqueduct of Sylvius: Atresia of foramina of Magendie and Luschka Dandy-Walker syndrome Other congenital hydrocephalus Congenital hydrocephalus, unspecified Other congenital malformations of brain Excludes: cyclopia macrocephaly Congenital malformations of corpus callosum Agenesis of corpus callosum Arhinencephaly Holoprosencephaly Other reduction deformities of brain Absence Agenesis Aplasia Hypoplasia of part of brain Agyria Hydranencephaly Lissencephaly Microgyria Pachygyria Excludes: congenital malformations of corpus callosum Septo-optic dysplasia Megalencephaly Congenital cerebral cysts Porencephaly Schizencephaly Excludes: acquired porencephalic cyst Other specified congenital malformations of brain Macrogyria Congenital malformation of brain, unspecified

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