21. EMedicine - Meckel-Gruber Syndrome : Article By Suzanne M Carter, MS Synonyms and related keywords MKS, dysencephalia splanchnocystica, Grubersyndrome, Gruber s syndrome, Meckel syndrome type 1, MKS1, MES http://www.emedicine.com/ped/topic1390.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Meckel-Gruber Syndrome Last Updated: April 11, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: MKS, dysencephalia splanchnocystica, Gruber syndrome, Gruber's syndrome, Meckel syndrome type 1, MKS1, MES AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Suzanne M Carter, MS , Senior Genetic Counselor, Associate, Department of Obstetrics and Gynecology, Division of Reproductive Genetics, Montefiore Medical Center, Albert Einstein College of Medicine Coauthor(s): Susan J Gross, MD, FRCS(C), FACOG, FACMG , Codirector, Division of Reproduction Genetics, Associate Professor, Department of Obstetrics and Gynecology, Albert Einstein College of Medicine Suzanne M Carter, MS, is a member of the following medical societies:

22. EMedicine - Meckel-Gruber Syndrome : Article Excerpt By: Suzanne M Carter, MS Synonyms, Key Words, and Related Terms MKS, dysencephalia splanchnocystica,Gruber syndrome, Gruber s syndrome, Meckel syndrome type 1, MKS1, MES http://www.emedicine.com/ped/byname/meckel-gruber-syndrome.htm

(advertisement) Excerpt from Meckel-Gruber Syndrome Synonyms, Key Words, and Related Terms: MKS, dysencephalia splanchnocystica, Gruber syndrome, Gruber's syndrome, Meckel syndrome type 1, MKS1, MES Please click here to view the full topic text: Meckel-Gruber Syndrome Background: Meckel-Gruber syndrome (MKS) (OMIM 24900) is a lethal, rare, autosomal recessive condition mapped to chromosome 17. The triad of occipital encephalocele, large polycystic kidneys, and postaxial polydactyly characterizes MKS. Associated abnormalities include oral clefting, genital anomalies, CNS malformations, and fibrosis of the liver. Pulmonary hypoplasia is the leading cause of death. With the advent of ultrasonography, prenatal diagnosis is possible during the second trimester or late first trimester. Pathophysiology: It has been suggested that a failure of mesodermal induction causes MKS. The induction cascades of early morphogenesis involve numerous growth factors, homeo box genes, and paired domain genes. Frequency: Internationally: Worldwide, incidence of MKS varies from 1 in 13,250 to 1 in 140,000 live births. There is a predilection for the Finnish population, in whom the birth incidence is 1 in 9000.

23. Meckel Syndrome dysencephalia splanchnocystica. Gruber syndrome. Meckel syndrome, type 1.MeckelGruber syndrome. MES. MKS. MKS1. Contribution of Apoptosis and http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=191

24. Developmental And Genetic Diseases Dyschromatosis universalis hereditaria 2 dysencephalia splanchnocystica (Meckel syndrome 10 ) Dyskeratosis congenita 15 http://www.gfmer.ch/genetic_diseases_v2/index.php?disinit=D

25. Meckel's Syndrome (www.whonamedit.com) dysencephalia splanchnocystica, splanchnocystic dyscephalia syndrome. The Meckel Syndrome (dysencephalia splanchnocystica, the Gruber syndrome). http://www.whonamedit.com/synd.cfm/2055.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 Meckel's syndrome Also known as: Gruber-Meckel syndrome Meckel-Gruber syndrome Gruber’s syndrome von Hippel-Lindau syndrome Simopoulos’ syndrome Synonyms: Dysencephalia splanchnocystica, splanchnocystic dyscephalia syndrome. Associated persons: Georg Benno Gruber Eugen von Hippel Arvid Vilhelm Lindau Johann Friedrich Meckel, the Younger ... Artemis P. Simopoulos Description: 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.

26. %249000 MECKEL SYNDROME, TYPE 1; MKS1 This condition was called dysencephalia splanchnocystica by Gruber (1934); (AkrocephaloSyndactylie und dysencephalia splanchnocystica). Beitr. Path. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:249000] -e

27. %201000 ACROCEPHALOPOLYSYNDACTYLY TYPE II E. Ueber zwei ungewoehnliche Dyscraniodysphalangien bei Geschwistern (atypischeAkrocephalosyndaktylie und fragliche dysencephalia splanchnocystica). http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:201000] -e

28. Meckel (Gruber) Syndrome Meckel (Gruber) Syndrome (dysencephalia splanchnocystica). Meckel Syndrome MeckelGruber syndrome Meckel-Gruber Syndrome Features Listed For http://www.bdid.com/meckel.htm

HOME Meckel (Gruber) Syndrome (Dysencephalia Splanchnocystica) Meckel Syndrome Meckel-Gruber syndrome Meckel-Gruber Syndrome Features Listed For MECKEL-GRUBER SYNDROME (DYSENCEPHALIA SPLANCHNOCYSTICA) ... HOME

29. Birth Disorder Information Directory - M Meckel (Gruber) Syndrome (dysencephalia splanchnocystica). List of Sites.MeckelLike Syndrome. See Cerebrorenodigital Syndrome. Medial Tibial Torsion http://www.bdid.com/defectm.htm

HOME M Machado Joseph Disease (Autosomic Dominant Spinocerebellar Ataxia, Autosomic Dominant Cerebellar Ataxia, Cerebelloolivary Atrophy, Olivopontocerebellar Atrophy, Pierre Marie Cerebellar Ataxia) List of Sites Macrencephaly List of Sites Macrocephaly List of Sites Macrodactyly/Megalodactyly Macrodactly of the Right Foot Macrodactyly of Both Hands and Foot Associated with Cutaneous Hemangiomata MEGALODACTYLY Macroglossia Macroglossia (Includes Ultrasounds and Photos) Also see Beckwith Wiedemann Syndrome Blomstrand Syndrome Congenital Hypothyroidism Mucopolysaccharidosis and Simpson Golabi Behmel Syndrome Macrogyria MACROGYRIA Asperger's Syndrome Macular Dystrophy Vitelliform See Best Disease/Macular Dystrophy Atypical MACULAR DYSTROPHY, ATYPICAL VITELLIFORM; VMD1 Macules Hereditary Congenital Hypopigmented and Hyperpigmented See Westerhof Beemer Cormane Syndrome Madelung's Deformity See Leri Weill Syndrome Majewski Syndrome See Short Rib-Polydactyly Syndrome, Type IV Mal de Meleda See Meleda Disease Male Pseudohermaphroditism Due to 5-Alpha-Reductase Deficiency See Pseudovaginal Perineoscrotal Hypospadias Due to Androgen Insensitivity See Androgen Insensitivity Syndrome Male Turner Syndrome See Noonan Syndrome Malignant Hyperthermia See Hyperthermia, Malignant

30. GORM C10.S1.2004.19 MeckelGruber Syndrome (dysencephalia splanchnocystica) A Case Report with PrenatalDiagnosis and Postmortem Evaluation Süleyman ESERDAÐ1, Serdar CEYLANER2 http://www.mebas.com.tr/gorm 2004/GORM C10.S1.2004.16.htm

31. GORM C10.S3.2004.22- Ýcerik Eserdað S, Ceylaner S, Tarhan Ý, Zengeroðlu S, Danýþman N. MeckelGruberSyndrome (dysencephalia splanchnocystica) A Case Report with Prenatal Diagnosis http://www.mebas.com.tr/gorm 2004/GORM C10.S3.2004.22.htm

32. Dorlands Medical Dictionary dysencephalia splanchnocystica (dys·en·ce·pha·lia splanch·no·cys·ti·ca)(disen²sschwa-fa¢le-schwa splank²no-sis¢tibreve-kschwa) Meckel s syndrome. http://www.merckmedicus.com/pp/us/hcp/thcp_dorlands_content.jsp?pg=/ppdocs/us/co

33. ICD-10 - Diagnose Dysencephalia Splanchnocystica ICD Q61.9 Translate this page Medizin ICD 10 dysencephalia splanchnocystica Q61.9. http://www.med-kolleg.de/icd/D/6850.htm

Home Arztsuche Kliniksuche Apothekensuche ... Impressum ICD-10 - Diagnose Dysencephalia splanchnocystica ICD Q61.9 Suche Suche nach Diagnose oder ICD10 A B C D ... Z Sie sind hier: Medizin ICD10 Verzeichnis D > Dysencephalia splanchnocystica ICD10 Code Dysencephalia splanchnocystica Diagnose: Dysencephalia splanchnocystica ICD10-Code: Q61.9 Der ICD10 ist eine internationale Klassifikation von Krankheiten ( Diagnose ). ICD10SGBV (die deutsche Fassung) wird in Deutschland als Schlüssel zur Angabe von Diagnosen, vor allem zur Abrechnung mit den Krankenkassen, verwendet.Der ICD10 Code für die Diagnose "Dysencephalia splanchnocystica " lautet "Q61.9". Dysencephalia splanchnocystica Anzeigen: Für die Diagnose "Dysencephalia splanchnocystica " ebenso wie für alle anderen Bereiche gilt: Allgemeine Medizin-Informationen können Ihren Arzt nicht ersetzen, da nur er die individuelle Situation Ihrer Gesundheit beurteilen kann. Alle Angaben erfolgen ohne Gewähr. Der ICD10 Code für die Diagnose Dysencephalia splanchnocystica ist "Q61.9".

34. Medizin-Lexikon - Diagnose Dysencephalia Splanchnocystica ICD Q61. dysencephalia splanchnocystica ICD10 Code dysencephalia splanchnocystica. http://www.med-kolleg.de/icd//6850.htm

35. Article : Meckel Syndrome - A Case Report; Author : SS Pawar, SD Pawar, VB Aundh It is also known by the synonyms dysencephalia splanchnocystica, Gruber Syndromeused in European literature 1 and Meckel Gruber Syndrome in some texts http://www.ijri.org/articles/ARCHIVES/2004-14-3/Gynaecological & Obstetric Imagi

Meckel Syndrome - A Case Report SS Pawar, SD Pawar, VB Aundhekar, GA Vaidya, SG Sampatkumar, DM Joshi Ind J Radiol Imag 2004 14:3:269-271 Keywords: Meckel Syndrome (MS), Autosomal Recessive (Infantile) Polycystic Kidney Disease (ARPKD) Syndrome (MS) is a rare and lethal syndrome characterized by a triad of occipital cephalocele, post axial polydactyly and dysplastic cystic kidneys. Here we present a case of MS which had all the features constituting the triad. Figure 1a Parasagittal and 1b Coronal Sonograms of the fetal abdomen showing enlarged echogenic kidneys with multiple cystic spaces Case Report Figure 2 Transverse sonogram of the fetal head showing occipital cephalocele. In view of the two lethal anomalies the patient was advised termination of pregnancy and genetic counselling. Radiograph of the autopsy specimen revealed polysyndactyly, occcipital cephalocele, a bell shaped thorax and bowed bones. (Fig. 3) Clinical examination revealed normal facial features and normal female external genitalia. Figure 3 Radiograph of the autopsy specimen showing occipital cephalocele, bell shaped thorax, a large protruberant abdomen polysyndactyly and bowed bones.

36. Article : Antenatal Ultrasound Diagnosis Of Meckel-Gruber Syndrome ; Author : N Meckel –Gruber syndrome is also known as dysencephalia splanchnocystica Meckelsyndrome (used in English literature) and Gruber syndrome (used in European http://www.ijri.org/articles/archives/20011104/case.htm

Antenatal Ultrasound Diagnosis of Meckel-Gruber Syndrome N Dahiya, Vijay S, S Prabhakar, S Subramaniam, Neha Dahiya Ind J Radiol Imag 2001 11:4:199-201 Keywords: Beckwith-Wiedmann syndrome, adrenal gland, cysts Introduction Meckel-Gruber syndrome is a rare and lethal autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and bilateral dysplastic cystic kidneys. It can be associated with many other conditions. Antenatal ultrasound examination can establish the correct diagnosis by identifying at least two of the major features described. Material and Methods A twenty-five-year-old woman with 16 weeks amenorrhea was referred for a second trimester ultrasonogram to detect fetal anomalies. There was history of first-degree consanguinity. The patient had two previous second trimester abortions. Records were not available and the patient stated that both the abortions were due to “abnormal kidneys”. Ultrasonography was done using GE logiq 500 PRO equipment, with a 4MHz Curvilinear transducer. The scan revealed bilateral enlarged hyperechoic kidneys (Fig.1,2), occipital encephalocele (Fig.3), six digits in all four limbs (Fig.4) and bilateral clubfeet. Though there was no oligohydramnios the fetal urinary bladder was not visualised both in the initial scan and in all repeat scans done over a period of two days.

37. Neural Tube Defects Spina Bifida P Meckel Gruber dysencephalia splanchnocystica Syndrome Images - PrenatalDiagnosis - H van der Slikke, MD Elevated maternal and amniotic fluid alpha 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...

38. Meckel Syndrome MeckelGruber syndrome, dysencephalia splanchnocystica. Printable version Meckel syndrome is an autosomal recessive disorder characterized by a http://www.humpath.com/article.php3?id_article=2822

39. Pathology Cases For Diagnosis It is also known as MeckelGruber Syndrome (dysencephalia splanchnocystica).It is transmitted through autosomal recessive inheritance with a reported http://www.usuhs.mil/pat/surg_path/s98-01/98-01.html

Case 98-01: Pediatric Syndromes I Contributed by: R. L. Katz, LCDR, MC, USNR Objectives: 1. Discuss clinical presentation, clinical course, inheritance pattern for Meckel Syndrome. 2. Discuss the diagnostic features of Meckel Syndrome including those listed as "minimal diagnostic criteria." 3. List the different diagnostic considerations for Meckel Syndrome. History: A 20-year-old gravida one para female at 39 weeks estimated gestational age presented to Labor and Delivery with spontaneous rupture of membranes with baby in breech position. A primary, low transverse C-section was performed with birth of a liveborn infant female. Apgar scores at one minute were one, five minutes one, and ten minutes four, with difficult ventilation (inadequate oxygenation despite maximal ventilatory settings). Multiple congenital anomalies were noted at birth. Ventilatory support was discontinued and the infant expired at approximately five hours of life. Permission for a full autopsy was granted by the infant's parents. Illustrations Figure 1 Posterior view of head showing occipital encephalocele and microcephaly Figure 2 Ear anomalies.

40. Disease, Medication, Symptom Etc Database Index : D Diseases Database dysencephalia splanchnocystica see MeckelGruber syndrome Dysesthesia Dysferlinopathysee Muscular dystrophy, late-onset distal http://www.diseasesdatabase.com/disease_index_d.asp

Diseases Database Index Sponsors Contact ... Previous Page Disease, medication, symptom etc database index : D Search see Stavudine Dacarbazine Daclizumab Dacrocystitis see Dacryocystitis Dacrocytosis see Teardrop poikilocytes Dacryoadenitis Dacryocystitis Dacryocytes see Teardrop poikilocytes Dactinomycin see Actinomycin D Dactylitis Dactylolysis spontanea see Ainhum Dactylysis spontanea see Ainhum Dalmatian hypouricemia Dalteparin Danaparoid sodium ... Danazol Dancing eyes-dancing feet syndrome see Opsoclonus myoclonus syndrome Dandruff see Seborrhoeic dermatitis Dandy-Walker syndrome Danielssen-Boeck disease see Lepromatous leprosy Danon disease see Glycogenosis type 2b Danthron see Dantron Dantrolene Dantron Dapiprazole Dappled metaphysis syndrome see Strudwick spondylometaepiphyseal dysplasia Dapsone Daptomycin Darbepoetin alfa see Erythropoietin Darier's disease see Keratosis follicularis (congenital) Darier's sign Darier-White disease see Keratosis follicularis (congenital) Darifenacin Daunorubicin David-O'Callaghan syndrome see VATER syndrome Davidson disease see Congenital microvillous atrophy Dawson's inclusion body encephalitis see Subacute sclerosing panencephalitis Dazoxiben DDAVP see Antidiuretic hormone DDC see Zalcitabine DDI see Didanosine DDT de Barsy syndrome De Clerambault syndrome see Kandinsky syndrome de Grouchy syndrome type 1 see Deletion of short arm of chromosome 18 de Grouchy syndrome type 2 see Deletion of long arm of chromosome 18 De la Chapelle dysplasia De Lange syndrome see Cornelia de Lange syndrome de Morsier syndrome see Septo-optic dysplasia de Morsier-Gauthier syndrome

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