Meckel Gruber Syndrome- A Case Report

Kulkarni, Vardendra; Bijjaragi, Seema; Belagatti, Satish; Kadam, Sunil S.
July 2012
Indian Journal of Forensic Medicine & Toxicology;Jul-Dec2012, Vol. 6 Issue 2, p236
Academic Journal
Meckel-Gruber syndrome (MKS) is a rare congenital polymalformative syndrome with an autosomal recessive mode of inheritance. It is characterized by a classic triad of renal cystic disease, CNS malformation and polydactyly. The outcome of the syndrome is usually lethal. Prenatal diagnosis of the syndrome can be made by ultrasound examination between 11-14 weeks of gestation. Termination of the pregnancy can be offered if the diagnosis is made before viability. The parents have to be counseled regarding the chances of recurrence in the subsequent pregnancy. We report a case of a stillborn male fetus with features compatible with Meckel-Gruber syndrome.


Related Articles

  • New Classification of Polydactyly of the Foot on the Basis of Syndactylism, Axis Deviation, and Metatarsal Extent of Extra Digit. Hyo Hyun Seok; Ji Ung Park; Sung Tack Kwon // Archives of Plastic Surgery;May2013, Vol. 40 Issue 3, p232 

    Background Polydactyly of the foot is one of the most frequent anomalies of the limbs. However, most classification systems are based solely on morphology and tend to be inaccurate and less relevant to surgical methods and results. The purpose of this study is to present our new classification...

  • Laparoscopic Reconstruction for Obstructive Megaureter: Single Institution Experience with Short- and Intermediate-Term Outcomes. Abraham, George P.; Das, Krishanu; Ramaswami, Krishnamohan; Siddaiah, Avinash T.; George, Datson; Abraham, Jisha J.; Thampan, Oppukeril S. // Journal of Endourology;Sep2012, Vol. 26 Issue 9, p1187 

    Purpose: To narrate our experience with laparoscopic reconstruction of obstructive megaureter (MGU) and assess the intermediate-term outcome achieved. Patients and Methods: Patients were evaluated in detail including presenting complaints, biochemical profile, and imaging (ultrasonography [USG],...

  • The Role of Ultrasound in Clubfoot Treatment: Correlation with the Pirani Score and Assessment of the Ponseti Method. El-Adwar, Khaled; Kotb, Hesham // Clinical Orthopaedics & Related Research;Sep2010, Vol. 468 Issue 9, p2495 

    To evaluate neonates and infants with clubfoot, clinical and imaging modalities are required. Conventional radiography is of limited value because the studied bones are not fully ossified. We attempted to (1) evaluate clinically and sonographically the reliability of the Ponseti method in...

  • Challenges and outcomes of management of anterior abdominal wall defects in a Nigerian tertiary hospital. Abdur-Rahman, Lukman O.; Abdulrasheed, Nasir A.; Adeniran, James O. // African Journal of Paediatric Surgery;May-Aug2011, Vol. 8 Issue 2, p159 

    Background: Abdominal wall defect presents a great challenge when it is large, ruptured, or associated with other anomalies. Objective: To review the challenges and outcome of management of anterior abdominal wall defects (AAWD). Materials and Methods: A retrospective review of omphalocele and...

  • Guidelines to Enhance Therapeutic Ultrasound Treatment Outcomes. Draper, David O. // Athletic Therapy Today;Nov98, Vol. 3 Issue 6, p7 

    Provides tips to enhance treatment outcomes of ultrasound. Synthesis of collagen; Reduction of muscle spasm; Strength of the sound waves. INSET: Guidelies for Effective Use of Therapeutic Ultrasound.

  • Long-term Outcome of Pregnancies with Increased Nuchal Translucency and Normal Karyotype. Orosz, L.; Lukács, J.; Szabó, M.; Kovács, T.; Zsupán, I.; Orosz, G.; Tóth, Z.; Török, O. // Donald School Journal of Ultrasound in Obstetrics & Gynecology;Jul-Sep2009, Vol. 3 Issue 3, p83 

    Objectives: The aim of this study was to examine the prevalence of major and minor anomalies according to the increase of NT thickness. Methods: This is a long-term retrospective study in which singleton gestations of euploid fetuses with increased NT were analyzed. NT measurement was performed...

  • Meckel-Gruber Syndrome: A Case Report. Kazi, Yasmin; Satoskar, Purnima // Internet Journal of Gynecology & Obstetrics;2009, Vol. 12 Issue 1, p12 

    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 establishes the diagnosis by...

  • Ultrasound delivery system enhances phaco efficiency and safety, surgeon says. Cimberle, Michela // Ocular Surgery News;10/10/2011, Vol. 29 Issue 19, p14 

    The article discusses a study which reveals that an ultrasound delivery system, the Ellips FX Transversal Ultrasound system, together with existing technology, improves efficiency and safety of phacoemulsification. Outcomes of two groups of patients in which traditional phaco with peristaltic...

  • Tedavi Edici Ultrasonun Etkin Kullanımında Kalibrasyon Òªalışmalarının Önemi. TUNA, Hakan // Turkish Journal of Physical Medicine & Rehabilitation / Turkiye ;jun2011, Vol. 57 Issue 2, p94 

    Therapeutic ultrasound is one of the most widely used electrophysical agents. The users are generally not well aware of the details of the technology of ultrasonic generators and cannot be asked to perform the complicated physical measurements to test their equipment. Frequently, the only way to...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics