SonoCredits.com Various Syndromes the most common is meckelgruber syndrome, which is anautosomal recessive disorder characterized by polydactyly, microcephaly http://www.sonocredits.com/article.asp?TestID=25
Radiology Links : Reviewed Links : FETAL IMAGING coves entities such as Achondroplasia, Amniotic band syndrome, Cleft lip and palate,Dandy Walker malformation, meckelgruber syndrome, Osteogenesis imperfecta http://www.refindia.net/rlinks/reviewedlinks/fetusimaging.htm
Extractions: Fetus.Net at http://www.thefetus.net/ is a "non-profit corporation dedicated to promote education about prenatal diagnosis by ultrasound over the web", presented by Philippe Jeanty. An educative Case of the Week is available at the click of a mosaic of images with the focus being on identifying findings or an anomaly. There are other absorbing sections such as: Recently posted articles, Continuing Medical Education - all these targeting physicians, sonographers and others who perform and/or interpret OB ultrasound. Fetal Biometrics Ultrasound at http://medicine.creighton.edu/radiology/Ultraoffetalbiomet.html is a brief article on Biometrics and Fetal Growth Retardation, which covers Biometrics, Individual measurement characteristics and techniques. Likewise, Fetal Morphometric Data is presented at http://133.8.16.86/shinozuka/data.html
Editedworks 5. Carter, SM and Gross, SJ. (1999). meckelgruber syndrome. Pediatrics An On-lineMedical Reference. 1st Edition. St. Petersburg. Emedicine Online Textbooks. http://members.aol.com/inv9/editedworks.htm
Extractions: PUBLICATIONS 1. Bombard AT, Powers JF, Carter S, Schwartz A, Nitowsky HM (1995): Procedure-related fetal losses in transplacental versus nontransplacental genetic amniocentesis. Am J Obstet Gynecol 172:668-72. 2. Carter SM, Bombard AT, Sachs G, Finn-Powers JM, Schwartz AD (1996): Placental echolucencies: does their presence influence outcome following genetic amniocentesis? Military Medicine 161, 4:243-45. 3. Carter SM, Chazotte C, Powers JF and Caride D (1996). Pregnancy courses in a patient with tuberous sclerosis. Obstet Gynecol 88, 4:724.
DIAGnostics Clinical Research - Year 1996 Iduronate sulphatase deficiency; BOWENOID HPV/ PT. REQ. meckelgruber/PT. REQ. Ataxia and retinitis pigmentosa; Klippel-Feil syndrome. http://www.hum-molgen.de/clinical/1996.html
Extractions: For more information on Clinical Research section please look at general page 19 December 1996 DIAG/CALL:OFD1 Trisomy 18, trisomy 13 paroxysmal kinesogenic dystonia Pericardiac Post-surgery Syndrome 5 December 1996 Gene Therapy For Myopathies DIAG: RP3 mutation studies LAD(CD18/CD11) Patient with 47,XXX,t(8;10)(q22.1;q24.1) ... Riedel's thyroiditis 29 November 1996 Looking for patients with Senior-Loken-syndrom 13q deletions and Retinoblastoma homozygous familial hypercholesterolemia patients Associations ... Have patients. Need researcher. 22 November 1996 Genotyping archeological remains anti-trypsin deficiency/autopsy Urbath-Wiethe (lipoidproteinosis) Byler Disease (Liver disease)/PT Req. ... ACC (aplasia cutis congenita) 4 November 1996 Wolf-Hirschhorn Syndrome (WHS) and Pitt-Rogers-Danks Syndrome (PRDS) multicore myopathy/ PT Req. long QT syndrome genotyping Hunter Syndrome/ PT Req. ... THIS IS AN ONCOLOGIC EMERGENCY 24 October 1996 otopalatodigital syndrome type 2 Currarino Triad/PT Request Prenatal diagnosis for Hemophilia A in Japan mesothelioma/PT Request ... Kallmann's syndrome (hypogonadotropic hypogonadism and anosmia) 15 October 1996 Fragile X locus (FMR1)/call for collaboration Friedreich's Ataxia/PT REQ.
Paragraphe 1 Translate this page Al'exclusion de syndrome de meckel-gruber (Q61.9). Q01.0 Encéphalocèle frontale Micro-encéphale.Al'exclusion de syndrome de meckel-gruber (Q61.9). http://www.med.univ-rennes1.fr/noment/cim10/cim10-c17.c_p1.html
Extractions: Q00.1 Cranio-rachischisis Comprend : A l'exclusion de : syndrome de Meckel-Gruber ( A l'exclusion de : syndrome de Meckel-Gruber ( Comprend : A l'exclusion de : . acquise ( . avec spina bifida (Q05.0- syndrome d'Arnold-Chiari ( Anomalie de l'aqueduc de Sylvius Syndrome de Dandy-Walker A l'exclusion de : cyclopie ( Agyrie Microgyrie Pachygyrie A l'exclusion de : A l'exclusion de : Macrogyrie Q05 Spina bifida Comprend : rachischisis spina bifida (aperta) (kystique) A l'exclusion de : spina bifida occulta ( syndrome d'Arnold-Chiari ( Spina bifida : Spina bifida : . dorsal SAI . dorso-lombaire SAI Hydrorachis A l'exclusion de : dysautonomie familiale [Riley-Day] ( neurofibromatose (non maligne) ( Anomalie d'un plexus nerveux
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
Neural Tube Defects tube defect affecting the skull resulting in the herniation of the meninges and portionsof the brain P OMIM Meckel Gruber syndrome type 1 Mostly for http://ibis-birthdefects.org/start/ntdfact.htm
Indian Pediatrics - Editorial Letters to the Editor. Indian Pediatrics 2001; 38 13251326. Fibrosisof the Liver in Meckel Gruber syndrome. Kumar and co-workers http://www.indianpediatrics.net/nov2001/nov-1325-1326.htm
Extractions: 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.
Indian Pediatrics - Editorial Meckel Gruber syndrome is characterized by encephalocele, polycystic kidney disease,polydactyly with or without cleft lip and palate(13). Hepatic fibrosis is http://www.indianpediatrics.net/nov2001/nov-1326-1327.htm
Extractions: 1. Brown JK, Minas RA. Disroder of the central nervous system. In: Forfar and Arneils 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: Averys 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
Health Library - Meckel Syndrome Synonyms. Dysencephalia Splanchnocystica; Gruber syndrome; MeckelGrubersyndrome; MES; MKS. Disorder Subdivisions. None. General Discussion. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=
163 Prenatal diagnosis of lethal congenital malformations in Sri Lanka De Silva and others(1) in their article titled Meckel Gruber syndromea single gene defect http://www.slmaonline.org/cmj/CMJ4604/163a.htm
Extractions: With obstetric ultrasound becoming freely available in this country, lethal malformations are being diagnosed with increasing frequency. Although the parents may prefer termination of pregnancy, the present abortion law in Sri Lanka compels its continuation, unless there is a threat to the mother's life. Meckel Gruber syndrome is a good example of the value of prenatal screening in high risk cases. Sepulveda et at. detected the anomaly in 4 out of 9 pregnancies with a past history of this syndrome (2). Further, they made the diagnosis in early pregnancy between 1] and 14 weeks. Indeed, early screening is recommended in Meckel Gruber syndrome, since development of anhydramnios in the second trimester makes it difficult to see the abnormal features (3).
30 Case reports Meckel Gruber syndrome a single gene cause of recurrent neural tubedefects Deepthi de Silva 1 , Devika Suriyawansa 2 , Manel Mangalika 3 and http://www.slmaonline.org/cmj/CMJ4601/30.htm
Extractions: Summary Meckel Gruber syndrome (MGS), an autosomal recessive disorder characterised by posterior encephalocoele, multicystic kidneys and post-axial polydactyly should be recognised by obstetricians and paediatricians to counsel parents regarding the 25% recurrence risk. We report a consanguineous family with Mgs affecting three infants. Case report The proband was seen during the 28th week of pregnancy when an ultrasound scan confirmed intrauterine growth retardation, oligohydramnios, an encephalocoele and cystic kidneys. A stillborn female infant weighing 1.2 kg was delivered at term. Post-mortem revealed an infant with a flattened nose, micrognathia, bilateral talipes equinovarus, limb contractures and bilateral post-axial polydactyly of hands. A skin covered posterior encephalocoele, enlarged multicystic kidneys and hypoplastic lungs were also found. This was the fourth child of first cousin Tamil parents, who have one surviving daughter. Two previous pregnancies resulted in infants who died soon after birth and had encephalocoeles.
The 11-14-week Scan - Chapter 4.3 It is often associated with microcephaly, hydrocephaly, spina bifidaand MeckelGruber syndrome. (Figure 10). MeckelGruber syndrome. http://www.fetalmedicine.com/11-14scanbook/Chapter 4/chap04-3.htm
Extractions: KH Nicolaides, NJ Sebire, RJM Snijders Acrania/exencephaly/anencephaly Prenatal ultrasonographic diagnosis of anencephaly during the second and third trimesters of pregnancy is based on the demonstration of an absent cranial vault and cerebral hemispheres . Animal studies have shown that, in the absence of the cranial vault, there is progressive degeneration of the exposed cerebral tissue to anencephaly In normal human fetuses, there is histological evidence that the onset of ossification of the cranial vault is at 10 weeks of gestation and that, ultrasonographically by 11 weeks, there is hyperechogenicity of the skull in comparison to the underlying tissues . Ultrasound reports have demonstrated that in the human, as in animal studies, there is progression from acrania to exencephaly and finally anencephaly ( Table 1 . In the first trimester, the pathognomonic feature is acrania, the brain being either entirely normal or at varying degrees of distortion and disruption. Goldstein et al . reported the difficulties with early diagnosis of anencephaly; the 12-week scan showed no defects but repeat examination at 26 weeks demonstrated anencephaly
Genetic Disorders Meckel Gruber syndrome In Memorium for Max Memorial, and research informationregarding Meckel Gruber syndrome. Parents Forum and more. http://www.foundhealth.com/Health/Conditions_and_Diseases/Genetic_Disorders/
Extractions: Advertisement Foundhealth.com Search All Terms Any Term Tips Browse foundhealth.com Health calculators Fast Food Database Speakers Bureau How to evaluate sites Submit a site Contact us Home - main directory Top Health Conditions and Diseases : Genetic Disorders See also: Health: Conditions and Diseases: Rare Disorders Rare Genetic Diseases In Children: An Internet Resource Gateway - A layman's guide to genetic diseases, and a comprehensive resource for families on lysosomal storage diseases. Alliance of Genetic Support Groups - Devoted to promoting optimum health care for people suffering from genetic disorders. Alpha-1 Antitrypsin Deficiency (A1AD) Association - Non-profit organization dedicated to improving the lives of those affected by this illness. Alpha One Foundation - Dedicated to finding a cure for alpha1-antitrypsin deficiency and to improving the quality of life of patients.
To The Editors Meckel Gruber syndrome is a good example of the value of prenatal screeningin highrisk cases. Sepulveda et al. detected the anomaly http://www.medinet.lk/journals/CMJ/2001/december/prenatal.htm
Extractions: To the Editors: Prenatal diagnosis of lethal congential malformations in Sri Lanka De Silva and others (1) in their article titled "M6ckel Gruber syndromes single gene defect causing recurrent neural tube defects" in a previous issue of the Journal highlight a problem often faced by Sri Lankan obstetricians. With obstetric ultrasound becoming freely available in this country, lethal malformations are being diagnosed with increasing frequency. Although the parents may prefer termination of pregnancy, the present abortion law in Sri Lanka compels its continuation, unless there is a threat to the mother's life. Meckel Gruber syndrome is a good example of the value of prenatal screening in highrisk cases. Sepulveda et al. detected the anomaly in 4 out of 9 pregnancies with a past history of this syndrome (2). Further, they made the diagnosis in early pregnancy between I I and 14 weeks. Indeed, early screening is recommended in Meckel Gruber syndrome, since development of anhydramnios in the second trimester makes it difficult to see the abnormal features (3).
American Life League - Communique 176, No. 2, pp. 268270). TARGETING MECKELGRUBER syndrome Waldo Sepulveda,MD, et al. conducted a study to determine the feasibility http://www.all.org/communique/cq970404.htm
Extractions: abortion PARTIAL-BIRTH: see infanticide GEORGIA: Family Concerns, Inc., has begun a petition drive in an effort to combat this misinformation campaign. The petition will be photocopied and sent to House Speaker Newt Gingrich, Sen. Jesse Helms, Rep. Chris Smith, and Georgia Governor Zell Miller. (Reading: press release from Family Concerns, Inc., 2/1/97) (Contact: Family Concerns, Inc., P.O. Box 550168, Atlanta, GA 30355) TRUTH OR PP? USA Today , 2/28/97, p. 3A) (Contact: Operation Rescue, P.O. Box 740066, Dallas, TX 75374) STEROID HORMONES AND PREBORN BABIES: A recent study of the side-effects of Depo-Provera shows that, if the contraceptive purpose fails, the hormone can cause fetal deformity, low birth weight and possible mortality. JABFP OPPOSITION IS MOUNTING: New York Times, Washington Times , 3/5/97, p. A5) Nature BLACK AMERICANS: TARGETING CYSTIC FIBROSIS: American Journal of Obstetrics and Gynecology American Journal of Obstetrics and Gynecology, TERMINALLY ILL: SEN. JESSE HELMS:
ORPHANET® : Meckel Syndrome Translate this page ORPHANET. ORPHANET database access. Meckel syndrome.Direct access to details Alias Home Page. http://www.orpha.net/static/GB/meckel.html
HeartCenterOnline For Patients - For Your Heart Health Growth Factors. Growth FailurePericardial Constriction syndrome (Mulibrey Nanismsyndrome). Gruber syndrome (Meckel Gruber syndrome). Guiding Catheter (Catheter). http://www.heartcenteronline.com/myheartdr/search/alpha3.cfm?startletter=G&curpa
HeartCenterOnline For Patients - For Your Heart Health Mechanical Rotational Atherectomy (Atherectomy). Mechanical Valve (Artificial HeartValve). Meckel Gruber syndrome. Median Sternotomy (Sternotomy). Mediastinum. http://www.heartcenteronline.com/myheartdr/search/alpha3.cfm?startletter=M&curpa
Genetic Disorders McArdle's Disease Information Source. Meckel Gruber syndrome In Memoriumfor Max. Medical Genetics has a homepage. Nail Patella syndrome. http://www.ability.org.uk/Genetic_Disorders.html
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