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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

41. 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.

42. Exam
calvarium. Next. 13. meckelgruber syndrome? 14. Encephalocele? 15. Holoprosencephaly?Click Here For Answer. 13. meckel-gruber syndrome autosmal
http://www.indianradiologist.com/exam3.htm
Exam Hall
We suggest you get a piece of paper and pencil and jot down your answers. You've got 5 minutes !
TOPIC : Syndromes 1. What is Ellis van Creveld syndrome (chondroectodermal dysplasia). 2. Iniencephaly? 3. Jeune Syndrome? Click Here For Answer
1. Ellis Van Creveld: recessive inherited, prevalent in Amish community in Pennsylvania, variable shortening more so in forearm and lower legs (mesomelic), hypoplastic tibia, cardiac anomalies (ASD), post axial polydactyly 2. Iniencephaly: defect in the occiput resulting in exposure of the brain, combined with dysraphism of the cervical spine, results in fusion of the occiput to the cervical spine, and retroflexion of the head with an exaggerated spinal lordosis, associated with encephalocele, spinal bifida. 3. Jeune syndrome (asphyxiating thoracic dystrophy): short ribbed limb reduction syndrome, inherited as autosomal recessive, severe rib shortening, thoracic reduction, renal dysplasia, hypoplastic lungs, post axial polydactyly. Next
5. Jarcot Levin Syndrome?

43. Catalogue Of Anomalies Diagnosable By Ultrasound, Part Of A
Hydrocephalus (1) Hydrocephalus (2) Hydrocoele Hydronephrosis Hydrops fetalisdue to Rh incompatibility meckelgruber syndrome Megaureter Microcephaly
http://www.ob-ultrasound.net/anomaly.html
Sorry, your browser doesn't suppor Java.
A Catalogue of Web pages describing particular abnormalities diagnosable by ultrasound
1A1V (cord)

Achondroplasia

Acondrogenesis

Agenesis of the Corpus Callosum
...
Spina bifida(1)
. See Myelomeningocele
Spina Bifida(2)

Short rib-polydactyl syndrome

Thanatophoric dwarfism
...
Ventricular septal defect A good web page on congenital pathology diagnosable by ultrasound can be found here at the Perinatology Network There are several web pages which may be of interest to readers of this page : Prescribing in Pregnancy drug teratogenicity Teratology a Primer If you have come across any good web page discussing a particular anomaly, please let me know. My mailbox Use the Alta Vista Search Engine to locate the abnormality you want to find, if it's not on the list : Search the Web Usenet and Display the Results in Standard Form in Compact Form in Detailed Form Back to top Back to Obstetric Ultrasound Back to Ultrasound FAQ page

44. Roche Lexikon Medizin (4. Aufl.) - Meckel* Divertikel
Translate this page M.*(-Gruber*) Syndrom. engl. meckel-gruber syndrome. autosomal-dominant vererbtemultiple Fehlbildungen, va Enzephalozele, polyzystische Nieren, Polydaktylie.
http://www.gesundheit.de/roche/ro22500/r24079.html
Meckel* Divertikel engl.: Meckel's diverticulum
Biogr.: J OHANN
Meckel* Divertikel
a) Schema
Divertikel als fortbestehender Rest des Ductus omphaloentericus (Abb.). Ist evtl. sehr lang; ist im Ileum vor der B AUHIN
M.* Knorpel engl.: M.'s cartilage
Fach: Embryologie Mandibulare
M.*(-Gruber*) Syndrom engl.: Meckel-Gruber syndrome autosomal-dominant vererbte multiple Fehlbildungen, v.a. Enzephalozele, polyzystische Nieren, Polydaktylie.
Verwandte Themen Darmdivertikel Diverticulum, Divertikel Ductus Mandibulare

45. Case Presentation :: Welcome To Mississippi Access Care
The differential for them above ultrasound findings may include pseudotrisomy13, SmithLemli-Opitz syndrome, and the meckel-gruber syndrome.
http://www.msaccesscare.com/case_review.php
Case Review
Trisomy 13 results in a collection of congenital anomalies that result from the extra number 13 chromosome, a translocation, or mosaicism for chromosome 13. As in other aneuploidies, structural malformations may involve multiple organ systems. It was originally described as a clinical syndrome in 1960 by Patau and is also known as Trisomy D or Patau syndrome.
The exact incidence is unknown because of the high rate of intrauterine fetal demise. Of those fetuses with Trisomy 13 detected between 12 and 16 weeks about 70 to 80% will not progress to a live birth. This highlights the importance of a detailed postmortem examination of any fetus, including karyotype, which has suffered a demise. The approximate incidence of trisomy 13 is thought to be 1 in 5000 live births.
The sonographic finding most commonly seen with trisomy 13 is holoprosencephaly. Other findings can include an abnormal midface, hypotelorism, and cleft lip or palate. The fetus with Trisomy 13 has a high incidence of structural cardiac malformations. Most commonly noted are a ventricular septal defect (VSD), a hypoplastic ventricle, or double-outlet right ventricle (DORV). Lehman et al.(1955) found that 91% of affected fetuses had one or more sonographically detectable abnormalities. Trisomy 13 should be considered in any fetus with holoprosencephaly, facial clefting, cardiac abnormalities, or polydactyly. Any such suspicious finding during an ultrasound examination warrants referral to a Maternal - Fetal Medicine specialist for a targeted ultrasound study.

46. Meckel-Gruber Syndrome
Up. meckelgruber syndrome TheFetus.net - http//www.thefetus.net An in depth lookat meckel gruber syndrome by Sandra R Silva, MD and Philippe Jeanty, MD, PhD.
http://www.medlina.com/meckel-gruber_syndrome.htm
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Meckel-Gruber Syndrome e-Medicine: Genetics and Metabolic Disease: MKS - http://www.emedicine.com
Meckel-Gruber syndrome, an introduction, clinical, differentials, work up, treatment and follow up. Human Genome Mapping Project - http://www.hgmp.mrc.ac.uk
A list of features for meckel-gruber syndrome, also known as dysencephalia splanchocystica. The Meckel-Gruber Foundation - http://meckel-gruber.org This foundation's goal is to help fund research, education and study regarding Meckel-Gruber Syndrome. TheFetus.net - http://www.thefetus.net An in depth look at meckel gruber syndrome by Sandra R Silva, MD and Philippe Jeanty, MD, PhD. SUBCATEGORIES Up powered by A merica M edica

47. Electricbrain Home: Index: Health: Conditions And Diseases: Genetic Disorders
Familial Hypercholesterolemia Joubert Syndrome FloatingHarbor Syndrome HereditarySpastic Paraplegia DiGeorge Syndrome meckel-gruber syndrome Soto's Syndrome
http://www.electricbrain.com/index/Health/Conditions_and_Diseases/Genetic_Disord
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48. Fetal Syndromes
BACK TO TOP OF PAGE meckelgruber syndrome
http://www.perinatology.com/ultrasound/syndromes.htm
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    49. Syndromes
    Disorders of Bone; meckelgruber syndrome; NCBI National Center forBiotechnology Information human genome mapping; National Human
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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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    51. Hepatomegaly From OMIM
    249000 MECKEL SYNDROME DYSENCEPHALIA SPLANCHNOCYSTICA; GRUBER SYNDROME;meckelgruber syndrome 39. 251900 MITOCHONDRIAL MYOPATHY 40.
    http://acadprojwww.wlu.edu/vol4/BlackmerH/public_html/xliberty/biology/hepatomeg

    52. SpringerLink: Child's Nervous System - Abstract Volume 14 Issue 3 (1998) Pp 142-
    case report meckelgruber syndrome. We present the case of a newbornafflicted with the clinical triad of meckel-gruber syndrome.
    http://link.springer-ny.com/link/service/journals/00381/bibs/8014003/80140142.ht
    Child's Nervous System
    ISSN: 0256-7040 (printed version)
    ISSN: 1433-0350 (electronic version) Table of Contents Abstract Volume 14 Issue 3 (1998) pp 142-145
    case report : Meckel-Gruber syndrome
    (1) Department of Neurosurgery, Istanbul University, Cerrahpasa Faculty of Medicine, Istanbul, Turkey
    (2) Department of Paediatrics, Istanbul University, Cerrahpasa Faculty of Medicine, Istanbul, Turkey
    Received: 7 September 1996 Revised: 15 January 1997 Abstract Meckel-Gruber syndrome is a congenital disorder characterized by occipital encephalocele, polydactyly and polycystic kidneys. This rare syndrome has been reported in the literature as incompatible with life. We present the case of a newborn afflicted with the clinical triad of Meckel-Gruber syndrome. Appropriate treatment instituted in our case led to a good early outcome. Key words Mailing address: 5. Gazeteciler Sitesi A. 19-4, Levent, Istanbul, Turkey Tel.: +90-212-279 56 13 Fax: +90-212-632 00 26
    Article in PDF-Format
    Online publication: March 30, 1998
    SpringerLink Helpdesk

    53. Genetic Disorders
    MachadoJoseph; Mannosidosis; McArdle's; meckel-gruber syndrome; MobiusSyndrome; Nail Patella Syndrome; Noonan Syndrome; Opitz Syndrome;
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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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    http://www.geneclinics.org/ 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. Category: Health > Conditions and Diseases > Genetic Disorders http://www.kumc.edu/gec/support/ 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 and homocystinuria and cystic fibrosis. Category: Health > Conditions and Diseases > Genetic Disorders http://www.mindspring.com/~sandysimmons/genetic_disorders.html

    54. M
    McArdle's Disease; @ Measles,Red; @ Measles, German; @ meckelgruber syndrome;@ Megaloblastic Anemia; @ Meige Syndrome. @ Melanoma; @ Melorheostosis;
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    55. Renal Cystic Disease
    dysplasia is often the only finding, but it may occur in combination with other anomaliesand be part of a syndrome (eg, meckelgruber syndrome), in which case
    http://medlib.med.utah.edu/WebPath/TUTORIAL/RENCYST/RENCYST.html
    Pathology of Renal Cystic Disease
    Return to the tutorial menu. Images available as described below range in file size from 50 to 250k.
    Recessive Polycystic Kidney Disease (RPKD)
    This condition is inherited in an autosomal recessive pattern, giving a 25% recurrence risk for parents having subsequent children. The kidneys are affected bilaterally, so that in utero, there is typically oligohydramnios because of poor renal function and failure to form significant amounts of fetal urine. The most significant result from oligohydramnios is pulmonary hypoplasia, so that newborns do not have sufficient lung capacity to survive, irrespective of any attempt to treat renal failure. RPKD may be termed "Type I" cystic disease in the Potter's classification. Grossly, the kidneys are markedly enlarged and tend to fill the retroperitoneum and displace abdominal contents. The kidneys tend to be symmetrically enlarged. The cysts are quite small and uniform, perhaps 1 to 2 mm on average. Microscopically, the characteristic finding in the later third trimester is cystic change with the cysts elongated and radially arranged. The few remaining glomeruli are not involved by the cysts, and the intervening parenchyma is not increased. In the second trimester, the cysts may not be as well-developed. A helpful finding at autopsy is the presence of congenital hepatic fibrosis, which accompanies RPKD.
  • Normal fetal kidneys, gross
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    57. MUMS List Of Disorders - M
    Disease (1) *; McCuneAlbright Syndrome (6) **; Measles Vaccine (badreaction) (9) *; meckel-gruber syndrome (2); Meckels Diverticulum
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    • Measles Vaccine (bad reaction) (9) *
    • Meckel-Gruber Syndrome (2)
    • Meckels Diverticulum (2)
    • Mediterranean Fever, Familial (2)

    58. ÂÛÎÄ
    7,Sepulveda W, Sebire NJ, Souka A, et al. Diagnosis of meckelgruber syndromeat eleven to fourteen weeks'gestation. Am J Obstet Gynecol,1997,176316-319.
    http://ultrasonic.51.net/keyanlunwen/22.htm

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    59. MECKEL CARTILAGE (Search FastHealth.com) MECKEL CARTILAGE
    and the connective tissue covering most of the remaining part ossifying to formmuch of the mandible JF Meckel the Younger see meckelgruber syndrome .
    http://www.fasthealth.com/dictionary/m/Meckel_cartilage.php
    Dictionary FastHealth Email This!
    n
    J. F. Meckel the Younger
    see MECKEL-GRUBER SYNDROME
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    60. Clavicle Fracture From Birth Trauma
    Differential Diagnosis Supernumerary Digit (no bony attachment). Associated ConditionsCarpenter's Syndrome; EllisVan Creveld Syndrome; meckel-gruber syndrome;
    http://www.fpnotebook.com/NIC72.htm
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  • Epidemiology Most common newborn orthopedic injury Signs Pain with movement and Moro reflex Pseudoparalysis of extremity on fracture side Sternocleidomastoid muscle spasm on affected side Crepitus at fracture site Palpable bony irregularity at fracture site Precautions Assess concurrent injury to adjacent structures Cervical spine Brachial plexus Humerus Radiology Chest XRay Management Immobilize arm and shoulder 7-10 days Safety pin infants sleeve to shirt Prognosis
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