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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

1. EMedicine - Meckel-Gruber Syndrome : Article By Suzanne M Carter, MS
meckelgruber syndrome. Background meckel-gruber syndrome (MKS) (OMIM 24900)is a lethal, rare autosomal recessive condition mapped to chromosome 17.
http://www.emedicine.com/ped/topic1390.htm
(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease
Meckel-Gruber Syndrome
Last Updated: May 19, 2003 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: American College of Medical Genetics Editor(s): Christian J Renner, MD

2. MECKEL-GRUBER SYNDROME (DYSENCEPHALIA SPLANCHNOCYSTICA)
A list of features for meckelgruber syndrome, also known as dysencephalia splanchocystica.
http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1095

3. Meckel-Gruber Syndrome
a CHORUS notecard document about meckelgruber syndrome Disclaimer. Feedback. Search. meckel-gruber syndrome. encephalocele. multiple renal cysts polycystic kidney disease. von Hippel-Lindau
http://chorus.rad.mcw.edu/doc/00465.html
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Meckel-Gruber syndrome
Charles E. Kahn, Jr., MD - 24 November 1995
Last updated 26 May 2004

Medical College of Wisconsin

4. Antenatal Ultrasound Diagnosis Of Meckel-Gruber Syndrome
Antenatal Ultrasound Diagnosis of meckelgruber syndrome. N Dahiya, Vijay S, S Prabhakar, S Subramaniam, Neha Dahiya. Ind J Radiol Imag 2001 114199-201. Keywords Beckwith-Wiedmann syndrome, adrenal gland, cysts. Introduction Introduction. meckel-gruber syndrome is a rare and lethal autosomal recessive disorder
http://www.ijri.org/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.

5. MECKEL-GRUBER.org The Official Meckel-Gruber Syndrome Website
Memorial, and research information regarding Meckel Gruber Syndrome
http://www.meckel-gruber.org/

6. Case Of The Month September 1998
OBGYN.net Ultrasound Case of the Month Sept. 1998. The Meckel Syndrome. by Hans van der Slikke, MD. 1. showed multiple cysts (picture 1.) Diagnosis meckelgruber syndrome. A few days later her
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.

7. Www.meckel-gruber.com
Established to help fund research, education and study regarding meckelgruber syndrome. Information about this condition and support resources for affected families.
http://www.meckel-gruber.com/

8. EMedicine - Meckel-Gruber Syndrome : Article Excerpt By: Suzanne M Carter, MS
eMedicine World Medical Library. (advertisement). Excerpt from meckelgruber syndrome. Pleaseclick here to view the full topic text meckel-gruber syndrome.
http://www.emedicine.com/ped/byname/meckel-gruber-syndrome.htm
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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.

9. Meckel-Gruber Syndrome - Information / Diagnosis / Treatment / Prevention
home genetic disorders meckelgruber syndrome meckel-gruber syndrome.Information • Diagnosis • Treatment • Prevention.
http://www.healthcyclopedia.com/genetic-disorders/meckel-gruber-syndrome.html

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Genetic Disorders McArdle s, Genetic Disorders meckelgruber syndrome. GeneticDisorders Mobius Syndrome, Genetic Disorders Nail Patella Syndrome.
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11. Meckel-Gruber Syndrome Information Diseases Database
meckelgruber syndrome Dysencephalia splanchnocystica, Disease Database Information Sponsors Contact Previous Page. meckel-gruber syndrome Information. Send meckel-gruber syndrome to medical search engines
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12. Meckel-Gruber Syndrome
Internet links on meckelgruber syndrome. Elsewhere on the Web. meckel-gruber syndrome.I am your Guide, From Mary Kugler, Your Guide to Rare / Orphan Diseases.
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    meckelgruber syndrome Guide picks. meckel-gruber syndrome Foundation Site offersinformation, forum, email list, and information about the Foundation.
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    Article describes Meckel-Gruber syndrome, also known as Meckel syndrome, its symptoms, diagnosis, and treatment. From the About.com Guide to Rare/Orphan Diseases. Meckel-Gruber Syndrome Foundation
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    This foundation's goal is to help fund research, education and study regarding Meckel-Gruber Syndrome. http://www.meckel-gruber.org/
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    A general discussion, alternate names along with further resources.
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    Meckel-Gruber syndrome, an introduction, clinical, differentials, work up, treatment and follow up. http://www.emedicine.com/ped/topic1390.htm
    Human Genome Mapping Project
    A list of features for meckel-gruber syndrome, also known as dysencephalia splanchocystica. http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1095
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    18. Meckel-Gruber Syndrome Information Diseases Database
    meckelgruber syndrome aka/or Dysencephalia splanchnocystica No UMLS definitions.Medical information linksmeckel-gruber syndrome specific sites.
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    19. Disease Directory : Genetic Disorders : Meckel-Gruber Syndrome
    Diseases Genetic Disorders meckelgruber syndrome. Conditions and Diseases- meckel-gruber syndrome Top Links - meckel-gruber syndrome Web Site Links.
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    20. Disease Directory : Re: Meckel-Gruber Syndrome
    Re meckel-gruber syndrome....... Diseases Genetic Disorders meckelgruber syndrome Re meckel-gruber syndrome. TitleRe meckel-gruber syndrome
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