Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: April 11, 2005 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:
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: MKS, dysencephalia splanchnocystica, Gruber syndrome, Gruber's syndrome, Meckel syndrome type 1, MKS1, MES 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:
Meckel Syndrome dysencephalia splanchnocystica. Gruber syndrome. Meckel syndrome, type 1.MeckelGruber syndrome. MES. MKS. MKS1. Contribution of Apoptosis and http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=191
Meckel's Syndrome (www.whonamedit.com) dysencephalia splanchnocystica, splanchnocystic dyscephalia syndrome. The Meckel Syndrome (dysencephalia splanchnocystica, the Gruber syndrome). http://www.whonamedit.com/synd.cfm/2055.html
Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. 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.
%249000 MECKEL SYNDROME, TYPE 1; MKS1 This condition was called dysencephalia splanchnocystica by Gruber (1934); (AkrocephaloSyndactylie und dysencephalia splanchnocystica). Beitr. Path. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:249000] -e
%201000 ACROCEPHALOPOLYSYNDACTYLY TYPE II E. Ueber zwei ungewoehnliche Dyscraniodysphalangien bei Geschwistern (atypischeAkrocephalosyndaktylie und fragliche dysencephalia splanchnocystica). http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:201000] -e
Meckel (Gruber) Syndrome Meckel (Gruber) Syndrome (dysencephalia splanchnocystica). Meckel Syndrome MeckelGruber syndrome Meckel-Gruber Syndrome Features Listed For http://www.bdid.com/meckel.htm
Birth Disorder Information Directory - M Meckel (Gruber) Syndrome (dysencephalia splanchnocystica). List of Sites.MeckelLike Syndrome. See Cerebrorenodigital Syndrome. Medial Tibial Torsion http://www.bdid.com/defectm.htm
Extractions: HOME Machado Joseph Disease (Autosomic Dominant Spinocerebellar Ataxia, Autosomic Dominant Cerebellar Ataxia, Cerebelloolivary Atrophy, Olivopontocerebellar Atrophy, Pierre Marie Cerebellar Ataxia) Macrencephaly Macrocephaly Macrodactyly/Megalodactyly Macroglossia Macrogyria Macular Dystrophy Macules Madelung's Deformity Majewski Syndrome Mal de Meleda Male Pseudohermaphroditism Due to Androgen Insensitivity Male Turner Syndrome Malignant Hyperthermia See Hyperthermia, Malignant
GORM C10.S1.2004.19 MeckelGruber Syndrome (dysencephalia splanchnocystica) A Case Report with PrenatalDiagnosis and Postmortem Evaluation Süleyman ESERDAÐ1, Serdar CEYLANER2 http://www.mebas.com.tr/gorm 2004/GORM C10.S1.2004.16.htm
GORM C10.S3.2004.22- Ýcerik Eserdað S, Ceylaner S, Tarhan Ý, Zengeroðlu S, Danýþman N. MeckelGruberSyndrome (dysencephalia splanchnocystica) A Case Report with Prenatal Diagnosis http://www.mebas.com.tr/gorm 2004/GORM C10.S3.2004.22.htm
Dorlands Medical Dictionary dysencephalia splanchnocystica (dys·en·ce·pha·lia splanch·no·cys·ti·ca)(disen²sschwa-fa¢le-schwa splank²no-sis¢tibreve-kschwa) Meckel s syndrome. http://www.merckmedicus.com/pp/us/hcp/thcp_dorlands_content.jsp?pg=/ppdocs/us/co
Extractions: ICD10-Code: Q61.9 Der ICD10 ist eine internationale Klassifikation von Krankheiten ( Diagnose ). ICD10SGBV (die deutsche Fassung) wird in Deutschland als Schlüssel zur Angabe von Diagnosen, vor allem zur Abrechnung mit den Krankenkassen, verwendet.Der ICD10 Code für die Diagnose "Dysencephalia splanchnocystica " lautet "Q61.9".
Extractions: In view of the two lethal anomalies the patient was advised termination of pregnancy and genetic counselling. Radiograph of the autopsy specimen revealed polysyndactyly, occcipital cephalocele, a bell shaped thorax and bowed bones. (Fig. 3) Clinical examination revealed normal facial features and normal female external genitalia.
Extractions: 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. 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.
Neural Tube Defects Spina Bifida P Meckel Gruber dysencephalia splanchnocystica Syndrome Images - PrenatalDiagnosis - H van der Slikke, MD Elevated maternal and amniotic fluid alpha http://ibis-birthdefects.org/start/ntdfact.htm
Meckel Syndrome MeckelGruber syndrome, dysencephalia splanchnocystica. Printable version Meckel syndrome is an autosomal recessive disorder characterized by a http://www.humpath.com/article.php3?id_article=2822
Pathology Cases For Diagnosis It is also known as MeckelGruber Syndrome (dysencephalia splanchnocystica).It is transmitted through autosomal recessive inheritance with a reported http://www.usuhs.mil/pat/surg_path/s98-01/98-01.html
Extractions: 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.
