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         Meckel-gruber Syndrome:     more detail
  1. Meckel-Gruber syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Amie, MS Stanley, 2005

21. Meckel-Gruber Syndrome : Meddie Health Search
LINKS eMedicine Genetics and Metabolic Disease MKS meckel-gruber syndrome,an introduction, clinical, differentials, work up, treatment and follow up.
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22. Genetic Disorders : Meddie Health Search
MachadoJoseph (5). Mannosidosis (2). McArdle's (4). meckel-gruber syndrome(6). Mobius Syndrome (6). Nail Patella Syndrome (9). Noonan Syndrome (5).
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23. Meckel-Gruber Syndrome - General Practice Notebook
meckelgruber syndrome. meckel-gruber syndrome is characterised by encephalocoele;cleft lip and palate; abnormal genitalia; polydactyly; polycystic kidney disease.
http://www.gpnotebook.co.uk/cache/1651179568.htm
Meckel-Gruber syndrome Meckel-Gruber syndrome is characterised by:
  • encephalocoele cleft lip and palate abnormal genitalia polydactyly polycystic kidney disease

Click here for more information...

24. Meckel Syndrome - General Practice Notebook
Meckel syndrome. meckelgruber syndrome is characterised by encephalocoele; cleftlip and palate; abnormal genitalia; polydactyly; polycystic kidney disease.
http://www.gpnotebook.co.uk/cache/1697972275.htm
Meckel syndrome Meckel-Gruber syndrome is characterised by:
  • encephalocoele cleft lip and palate abnormal genitalia polydactyly polycystic kidney disease

Click here for more information...

25. Case Of The Month September 1998
Both kidneys showed multiple cysts (picture 1.) Diagnosis meckelgruber syndrome.A few days later her pregnancy was terminated with a sulproston infusion.
http://www.obgyn.net/us/cotm/9809/cotm_9809.htm
OBGYN.net Ultrasound: Case of the Month Sept. 1998 The Meckel Syndrome by Hans van der Slikke, MD
1. In 1992 a 27 year old woman was seen in our obstetric ultrasound department, because of routine sonography for her first pregnancy of 16 weeks and 4 days. Her general history were negative, as was her family history. The ultrasound showed dilated ventricles and an occipital encephalocele. Both kidneys showed multiple cysts (picture 1.) Diagnosis: Meckel-Gruber syndrome. A few days later her pregnancy was terminated with a sulproston infusion. Pathology confirmed the diagnosis. Next to the already described malformations the right foot counted 6 toes, while the left hand showed an extra finger. Because the Meckel-Gruber syndrome is a recessive disease, she was told that she had a 25% chance of having an affected fetus in her next pregnancy. 2. Five months later she reported a new pregnancy. At 9 weeks she seemed to have a normal ultrasound, but at 12 weeks a cranial cyst was seen (picture 2.). Pathology: because of the curettage it was difficult to recognize fetal parts. However two hands with 6 fingers each were found. This seems a confirmation of the diagnosis M-G syndrome.

26. Meckel Syndrome
Jones KL. meckelgruber syndrome. In Smith's Recognizable Patterns of HumanMalformation. 5th ed. Philadelphia WB Saunders Company, 1997184-185.
http://ibis-birthdefects.org/start/ukrainian/umekkel.htm
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    Dysencephalia splanchnocystica
      îíàäè çìåíøåí³, äèñïëàñòè÷í³. Äëÿ õëîï÷èê³â õàðàêòåðí³ êðèïòîðõ³çì, ã³ïîïëàç³ÿ çîâí³øí³õ ñòàòåâèõ îðãàí³â. Ó ä³â÷àòîê – äâîðîãà ìàòêà, àòðåç³ÿ ï³õâè, ïåðåòèíêà ï³õâè. Ïðîì³æíà áóäîâà ãåí³òàë³é çóñòð³÷àºòüñÿ ïðè ÷îëîâ³÷îìó ïñåâäîãåðìàôðîäèòèçì³ ç êàð³îòèïîì 46 XY. Îâîòåñò³ñ ìîæëèâèé, àëå áóâຠð³äêî. Âàäè ðîçâèòêó ê³íö³âîê òðàïëÿþòüñÿ ÷àñòî ³ º îäí³ºþ ç ä³àãíîñòè÷íèõ îçíàê äàíîãî ñèíäðîìó. Õàðàêòåðíà ïîë³äàêòèë³ÿ, ÿê ïðàâèëî, ïîñòàêñ³àëüíà íà íèæí³õ ³, ÷àñò³øå, íà âåðõí³õ ê³íö³âêàõ. Ïîë³äàêòèë³ÿ ìîæå ïîºäíóâàòèñÿ ³ç ñèíäàêòè볺þ (÷àñò³øå II – III ïàëüö³â ñòóïí³â). Îïèñàíà óëüíàðíà äåâ³àö³ÿ ðóê òà êëèøîíîã³ñòü.
        C³äíè÷íå ïåðåäëåæàííÿ ïëîäà, ìàëîâ³ääÿ.
          Ñèíäðîì ìîæíà ä³àãíîñòóâàòè ïðåíàòàëüíî, âèêîðèñòîâóþ÷è óëüòðàñîíîãðàô³þ òà âèçíà÷åííÿ ð³âíÿ àëüôà-ôåòîïðîòå¿íó. Ðèçèê äàíîãî ñèíäðîìó çíà÷íî çðîñòàº, ÿêùî â ñ³ì’ ¿ âæå áóëè õâîð³ ñ³áñè. Çà äîïîìîãîþ óëüòðàñîíîãðàô³¿ ìîæíà ä³àãíîñòóâàòè åíöåôàëîöåëå òà ïîë³êèñòîç íèðîê. гâåíü àëüôà-ôåòîïðîòå¿íó â ñèðîâàòö³ ìàòåð³ òà íàâêîëîïë³äíèõ âîäàõ çðîñòຠïðè íàÿâíîñò³ ó ïëîäà ÷åðåïíî-ìîçêîâî¿ êèëè ÷è àíåíöåôà볿. Öå õàðàêòåðíî äëÿ II òðèìåñòðó âàã³òíîñò³.
      • Fraser FC, Lytwyn A. Spectrum of anomalies in the Meckel syndrome: or, "Maybe there is a malformation syndrome with at least one constant anomaly". American Journal of Medical Genetics 1981;9:67-73.

27. Searchalot Directory For Meckel-Gruber Syndrome
Sponsored Links. Top Health Conditions and Diseases Genetic Disorders MeckelGruberSyndrome (5). Related Web Sites.
http://www.searchalot.com/Top/Health/ConditionsandDiseases/GeneticDisorders/Meck
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28. Searchalot Directory For M
Hauser Syndrome (10); McArdle's Disease (2); Measles, German (3);Measles,Red (7); meckelgruber syndrome (5); Megaloblastic Anemia(7
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29. 1Up Health > Health Links Directory > Conditions And Diseases: M
Syndrome (5) Mayer Rokitansky Kuster Hauser Syndrome (10) McArdle's Disease (2)Measles, German (3) Measles,Red (7) meckelgruber syndrome (5) Megaloblastic
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30. Meckel's Syndrome (www.whonamedit.com)
Also known as GruberMeckel syndrome meckel-gruber syndrome Gruber’s syndromevon Hippel-Lindau syndrome Simopoulos’ syndrome Synonyms Dysencephalia
http://www.whonamedit.com/synd.cfm/2055.html

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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. After Meckel, the syndrome was described by Willem Vrolik (1801-1863) in 1854, by August Förster (1822-1865) in 1862, and by Johann Ludwig Casper in 1864. However, the identity of this syndrome was not established until 1969, when John Marius Opitz (1935–) and J. J. Howe proposed the name Meckel syndrome. They delineated its clinical and pathological features. S. Mecke and E. Passarge confirmed the autosomal recessive hypothesis by a a priori method. Nowadays it is clearly an autosomal recessive disorder.

31. Hippel-Lindau Disease (www.whonamedit.com)
retina (Lindau's disease). The term von HippelLindau syndrome has been used asa synonym for meckel-gruber syndrome, or splanchnocystic dyscephalia syndrome.
http://www.whonamedit.com/synd.cfm/2057.html

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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 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 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. The term von Hippel-Lindau syndrome has been used as a synonym for Meckel-Gruber syndrome, or splanchnocystic dyscephalia syndrome. This is a different entity entered under Johann Friedrich Meckel, the Younger, German anatomist, 1781-1833.

32. Directory :: Look.com
meckelgruber syndrome (5) Sites. Human Genome Mapping Project A list of featuresfor meckel-gruber syndrome, also known as dysencephalia splanchocystica.
http://www.look.com/searchroute/directorysearch.asp?p=522062

33. Listings Of The World Health Conditions And Diseases Genetic
eMedicine Genetics and Metabolic Disease MKS Post Review meckel-gruber syndrome,an introduction, clinical, differentials, work up, treatment and follow up.
http://listingsworld.com/Health/Conditions_and_Diseases/Genetic_Disorders/Meckel

34. Listings Of The World Health Conditions And Diseases Genetic
14) LaurenceMoon Syndrome (5) Lesch-Nyhan Syndrome (6) Lowe Syndrome (6) Machado-Joseph(7) Mannosidosis (3) McArdle's (3) meckel-gruber syndrome (6) Mobius
http://listingsworld.com/Health/Conditions_and_Diseases/Genetic_Disorders/

35. Medicalseek - Search Engine For The Healthcare Industry
Conditions and DiseasesGenetic Disordersmeckelgruber syndrome e-MedicineGenetics and Metabolic Disease MKS meckel-gruber syndrome, an introduction
http://www.medicalseek.net/Conditions_and_Diseases_Genetic_Disorders_Meckel_Grub
CATEGORIES ADD A LINK ADVERTISE CONTACT US ... Genetic Disorders Meckel-Gruber Syndrome
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  • e-Medicine: Genetics and Metabolic Disease: MKS
    Meckel-Gruber syndrome, an introduction, clinical, differentials, work up, treatment and follow up.
    emedicine.com/ped/topic1390.htm
    Human Genome Mapping Project

    A list of features for meckel-gruber syndrome, also known as dysencephalia splanchocystica.
    hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?10...
    NORD - Meckel Syndrome

    A general discussion, alternate names along with further resources.
    stepstn.com/cgi-win/nord.exe?proc=Redir... The Meckel-Gruber Foundation This foundation's goal is to help fund research, education and study regarding Meckel-Gruber Syndrome. meckel-gruber.org/ TheFetus.net An in depth look at meckel gruber syndrome by Sandra R Silva, MD and Philippe Jeanty, MD, PhD. thefetus.net/sections/articles/Syndrome...
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36. Medicalseek - Search Engine For The Healthcare Industry
LeschNyhan Syndrome Category Lowe Syndrome Category Machado-Joseph Category Mannosidosis,Category McArdle's Category meckel-gruber syndrome Category Mobius
http://www.medicalseek.net/Conditions_and_Diseases_Genetic_Disorders.html
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    A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease.
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    Gene Clinics

    Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.
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37. NORD - National Organization For Rare Disorders, Inc.
MES; MKS; meckelgruber syndrome. Disorder Subdivisions General DiscussionMeckel Syndrome is a rare inherited disorder. Major symptoms
http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Meckel Syndro

38. Pathology Cases For Diagnosis
but wellstudied disorder. It is also known as meckel-gruber syndrome(dysencephalia splanchnocystica). It is transmitted through
http://wwwpath.usuf2.usuhs.mil/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.

39. Meckel-Gruber Syndrome Website Results :: Linkspider UK
meckelgruber syndrome Websites from Linkspider UK. Keyword Meckel-GruberSyndrome. Linkspider UK Directory meckel-gruber syndrome Search for.
http://www.linkspider.co.uk/Health/ConditionsandDiseases/GeneticDisorders/Meckel
Meckel-Gruber Syndrome Websites from Linkspider UK Keyword: Meckel-Gruber Syndrome Linkspider UK Directory
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40. M Website Results :: Linkspider UK
Measles, German@ (3); Measles,Red@ (7); meckelgruber syndrome@ (5); MegaloblasticAnemia@ (7); Meige Syndrome@ (4); Melanoma@ (40); Melorheostosis
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