Extractions: (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 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
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
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
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.
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
Extractions: 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.
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/
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:
Extractions: Web Directory: e-Medicine: Genetics and Metabolic Disease: MKS Meckel-Gruber syndrome, an introduction, clinical, differentials, work up, treatment and follow up. Human Genome Mapping Project A list of features for meckel-gruber syndrome, also known as dysencephalia splanchocystica. NORD: Meckel Syndrome A general discussion and alternate names along with further resources.
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