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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

61. ZapMeta Directory > Health > Conditions And Diseases > Genetic Disorders > Mecke
Web Sites in Category meckelgruber syndrome Display results 1- 4 of 4 matches. •. e-Medicine Genetics and Metabolic Disease
http://www.zapmeta.com/search/meta/db.pl?dir=522062

62. 1684
Links. links linking info. 1684. Features described and illustrated in1684 suggesting meckelgruber syndrome. link In 1684, Mr. Christopher
http://mind-brain.com/abstracts.php?qa=1684

63. Oral-Facial-Digital Syndrome, Type I
oralfacial-digital syndrome types II, III, IV, V, VI, IX. cystic renal disease.meckel-gruber syndrome. Etiology genetic. Tissue of Origin embryonic tissue.
http://www.dental.mu.edu/oralpath/lesions/oralfacialdigital/oralfacialdigital.ht
Oral-Facial-Digital Syndrome, Type I An X-linked dominant condition with lethality in males and is characterized by malformations of the face, oral cavity, and digits, and by a highly variable expressivity even within the same family.
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

64. Diseases
Lowe Syndrome. MachadoJoseph. Mannosidosis. McArdle s. meckel-gruber syndrome.Mobius Syndrome. Nail Patella Syndrome. Noonan Syndrome. Opitz Syndrome. Organizations.
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65. JUM -- Abstracts: Nyberg Et Al. 9 (12): 691
meckelgruber syndrome. Recurrence of meckel-gruber syndrome may be evaluatedas soon as 14 weeks, but it may not be reliably excluded until 20 weeks.
http://www.jultrasoundmed.org/cgi/content/abstract/9/12/691
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Meckel-Gruber syndrome. Importance of prenatal diagnosis
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 of 2 to 5 mm. The remaining fetus demonstrated unilateral renal cystic dysplasia and contralateral renal agenesis. Oligohydramnios was noted in

66. Blackwell Synergy - Cookie Absent
Distribution of myofibroblastic cells in the liver and kidney of MeckelGrubersyndrome. meckel-gruber syndrome A lethal combination of abnormalities.
http://www.blackwell-synergy.com/links/doi/10.1111/j.1440-1827.2004.01586.x/abs/
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67. 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.

68. 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.

69. WebGuest Directory - Health : Conditions And Diseases : Genetic Disorders
Lissencephaly; Lowe Syndrome; Lymphedema; MachadoJoseph; Mannosidosis;Marfan Syndrome; McArdle s; meckel-gruber syndrome; Menkes Syndrome;
http://directory.webguest.com/Health/Conditions_and_Diseases/Genetic_Disorders
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  • Blepharophimosis Ptosis Epicanthus Inversus Syndrome - The BPEI (BPES) Family Network encourages people to get in touch with each other, share information and ask questions. Explanation of this rare eye disorder. Dr. Greene's HouseCalls - A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. 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. Genetic Disorders: The Links to Diet - Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy, homocystinuria, and cystic fibrosis. Genetic and Rare Conditions Site - Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.

70. YOUNG ONSET NEUROLOGICAL DISEASE ASSOCIATION Br YONDA For Short
Joseph (6); Mannosidosis (2); Marfan Syndrome@ (39); McArdle s (2);meckelgruber syndrome (4); Menkes Syndrome@ (6); Mobius Syndrome(5
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71. MUMS List Of Disorders - M
Disease (1) *; McCuneAlbright Syndrome (6) **; Measles Vaccine (badreaction) (9) *; meckel-gruber syndrome (2); Meckels Diverticulum
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72. Conditions And Diseases: Genetic Disorders: Meckel-Gruber Syndrome
Health and Home. meckelgruber syndrome. families. http//www.meckel-gruber.com/.meckel-gruber syndrome. Last Update Mon May 10 2004.
http://www.health-home.net/Conditions_and_Diseases/Genetic_Disorders/Meckel-Grub
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Meckel-Gruber Syndrome
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Looking for something in particular? the entire directory only this category Home Conditions and Diseases Genetic Disorders : Meckel-Gruber Syndrome LINKS:
  • e-Medicine: Genetics and Metabolic Disease: MKS
    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
  • NORD: Meckel Syndrome
    A general discussion and alternate names along with further resources.
    http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Meckel%20Syndrome
  • The Meckel-Gruber Foundation Established to help fund research, education and study regarding Meckel-Gruber Syndrome. Information about this condition and support resources for affected families. http://www.meckel-gruber.com/
Meckel-Gruber Syndrome
Last Update: Mon May 10 2004

73. Special Needs Family Fun - Encephaloceles
Emedicine meckel-gruber syndrome - http//www.emedicine.com/ped/topic1390.htm Meckel-Grubersyndrome (MKS) (OMIM 24900) is a lethal, rare autosomal recessive
http://www.specialneedsfamilyfun.com/files/encephaloceles.html
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Amersham Health - http://www.amershamhealth.com/medcyclopaedia/Volume%20VI%201/cephalocele.asp
Cephalocele, dehiscence of intracranial tissue through an abnormal cranial opening, usually a congenital defect in the skull and dura. According to the type of the herniating structure cephaloceles... Atlas of Fetal MRI - http://134.174.229.219/radiology/research/mri/fetalatlas/brain/encephalocele/encephalocele.html
Atlas of Fetal MRI - MRI images of encephaloceles... BC HealthGuide Program - http://www.bchealthguide.org/kbase/nord/nord867.htm
Encephalocele is a rare disorder in which an infant is born with a gap in the skull; that is, a part of one or more of the plates that form the skull does not close... Birth disorder information directory - http://www.bdid.com/encephalocele.htm

74. AOL Canada Search: Search Results
McArdle s (2); meckelgruber syndrome (5); Menkes Syndrome@ (7); MobiusSyndrome (5); Multiple Hereditary Exostoses@ (7); Muscular Dystrophies
http://search.aol.ca/cat.adp?id=43396&layer=&from=subcats

75. Genetic Disorders
Lissencephalys. Lowe Syndromes. Lymphedemas. MachadoJosephs. Mannosidosiss. Marfan_Syndromes.McArdle ss. meckel-gruber syndromes. Menkes _Syndromes. Mobius Syndromes.
http://www.supercrawler.com/Health/Conditions_and_Diseases/Genetic_Disorders/
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76. Sociedad Argentina De Radiología
Translate this page diagnosis of congenital malformations, even in cases of complex anomalies, such asthe body stalk anomaly and the meckel-gruber syndrome, providing information
http://www.sar.org.ar/06revista/062-042.asp
Vol. 55 (1991) Vol. 56 (1992) Vol. 57 (1993) Vol. 58 (1994) ... Vol. 66 (2002) Malformaciones congénitas poco frecuentes. Hallazgos ecográficos en dos casos.
Dres. Gabriela Romano, Carlos Sessarego, Adriana Pavicich, Ivana Bacci, Isabel Vaselli. Resumen La presente comunicación ratifica la ya conocida utilidad del método ecográfico en el diagnóstico de malformaciones congénitas, aún en el caso de anomalías complejas como las que se describen, aportando información que facilita los diagnósticos diferenciales y ayuda a decidir el abordaje obstétrico y el posible tratamiento. Palabras clave: anomalías fetales, complejo miembro-pared, Síndrome de Meckel-Gruber, ecografía. Summary This communication ratifies the already known usefulness of ultrasound studies in the diagnosis of congenital malformations, even in cases of complex anomalies, such as the body stalk anomaly and the Meckel-Gruber Syndrome, providing information that facilitates differential diagnosis and helps in the decision about the obstetrics approach and the possible treatment. Key words: Fetal malformations, Body stalk Syndrome, Meckel-Gruber Syndrome, US.

77. Genetic Disorders
Joseph (7); Mannosidosis (2); Marfan Syndrome@ (38); McArdle s (2);meckelgruber syndrome (4); Menkes Syndrome@ (6); Mobius Syndrome(5
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See Also:
  • Health: Conditions and Diseases: Congenital Anomalies
  • Health: Conditions and Diseases: Rare Disorders 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. Dr. Greene's HouseCalls - A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. The UDGD Spot - Resources and information for families of children with genetic disabilities or syndromes that are still awaiting a diagnosis. Primary Ciliary Dyskinesia - Information on a rare congenital disease. Genetic and Rare Conditions Site - Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.

78. TheFetus.net - Meckel Gruber Syndrome -Maria Verônica Muñoz Rojas, MD
200010-23-05 Meckel Gruber syndrome © Muñoz Rojas http//www.thefetus.net/.Meckel Gruber syndrome. This is a term baby-girl with Meckel Gruber syndrome.
http://www.thefetus.net/page.php?id=426

79. TheFetus.net - Meckel Syndrome -Sandra R Silva, MD & Philippe Jeanty, MD, PhD
both Medline’s Medical Subject Heading and the Birth Defect Encyclopedia1, Grubersyndrome (used in the European literature)2, Meckel–Gruber syndrome.
http://www.thefetus.net/page.php?id=427

80. Birth Disorder Information Directory - G
GAPO syndrome. Gruber syndrome See Meckel (Gruber) syndrome. Guizar VasquezLuengas syndrome (Corneal Dystrophy with Epithelial and Short Stature)
http://www.bdid.com/defectg.htm

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