Abstract
Meckel-Gruber syndrome is a rare, lethal autosomal recessive disorder, which is mainly characterized by cystic renal disease, encephalocele, and polydactyly. For diagnosis, two out of these three findings required to be present. This syndrome seen rarely but have high risk of reccurence. The signs of the syndrome can be detected during the routine ultrasonographic examination between 11-14th weeks of the pregnancy. Early diagnose should be made by examining the fetus ultrasonographically for the signs of syndrome. Because of 25% chance of recurrence, these patients should be closely followed up in future pregnancies. In this article, we aimed to present a case with intrauterineMGS.
References
- Meckel JF. Beschreibung zweier, durch sehr aehnliche. Bildungsabwei- chungen entsellter Geschwister Dutsch. Arch Physiol 1822; 7: 99-172.
- Gruber GB. Beitraege zur frage ‘‘gekoppelter’’ missbildungen (akrocep- halo-syndactylie und dysencephalia splanchnocystica). Beitr Path Anat 1934; 93: 459-76.
- Balci S, Ercal MD, Beksac S, et al. Meckel Gruber syndrome: a case diagnosed in utero. Turk J Pediatr 1992;34: 179.
- Salonen R, Kestilä M, Bergmann C. Clinical utility gene card for: Meckel syndrome. Eur J Hum Genet 2011; 19: doi:10.1038/ejhg.2010.255.
- Frank V, Bruchle NO, Mager S, et al.. Aberrant splicing is a common mu- tational mechanism in MKS1, a key player in Meckel-Gruber syndrome. Hum Mutat 2007; 28: 638-9.
- Nyberg DA, Hallesy D, Mahony BS, Hirsch JH, Luthy DA, Hickok D. Mec- kel Gruber sydrome: importance of prenatal diagnosis. J Ultrasound Med 1990; 9-12: 691-6.
- Chen CP. Meckel syndrome: genetics, perinatal findings, and differential diagnosis. Taiwan J Obstet Gynecol 2007;46:9-14.
- Quintero RA, et al. Transabdominal thin-gauge embryofetoscopy: a tech- nique for early prenatal diagnosis and its use in the diagnosis of a case of Meckel-Gruber syndrome. Am J Obstet Gynecol.1993;168:1552-7.
- Parelkar SV Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature. J Pediatr Neurosci. 2013;8:154-7.
- Barisic I. Meckel-Gruber Syndrome: a population-based study on preva- lence, prenatal diagnosis, clinical features, and survival in Europe. Eur J Hum Genet. 2014 Sep 3. doi: 10.1038/ejhg.2014.174.
- Moerman P, et al. The pathology of trisomy 13: a study of 12 cases. Hum Genet. 1988;80:349-56.
Abstract
Meckel-Gruber sendromu nadir görülen, otozomal resesif geçiş gösteren ve ana bulguları renal kistik displazi, ensefalosel ve polidaktili olan ölümcül seyreden kalıtsal bir hastalıktır. Bunlardan üçünden en az ikisinin olması tanıyı koydurur. Nadir görülmekle birlikte tekrarlama riski yüksektir. Gebeliğin 11-14. haftalarında yapılan rutin ultrasonografik tarama ile Meckel-Gruber sendromu tanısı konulabilir. Sendroma yönelik bulgular aranarak tanı mümkün olduğunca erken konmalıdır. %25 tekrarlama riski nedeniyle bu hastalar sonraki gebeliklerinde yakın takip edilmelidirler. Bu yazıda intrauterin Mecgel Gruber Sendromu saptanan bir olgu sunulmasını amaçladık.
References
- Meckel JF. Beschreibung zweier, durch sehr aehnliche. Bildungsabwei- chungen entsellter Geschwister Dutsch. Arch Physiol 1822; 7: 99-172.
- Gruber GB. Beitraege zur frage ‘‘gekoppelter’’ missbildungen (akrocep- halo-syndactylie und dysencephalia splanchnocystica). Beitr Path Anat 1934; 93: 459-76.
- Balci S, Ercal MD, Beksac S, et al. Meckel Gruber syndrome: a case diagnosed in utero. Turk J Pediatr 1992;34: 179.
- Salonen R, Kestilä M, Bergmann C. Clinical utility gene card for: Meckel syndrome. Eur J Hum Genet 2011; 19: doi:10.1038/ejhg.2010.255.
- Frank V, Bruchle NO, Mager S, et al.. Aberrant splicing is a common mu- tational mechanism in MKS1, a key player in Meckel-Gruber syndrome. Hum Mutat 2007; 28: 638-9.
- Nyberg DA, Hallesy D, Mahony BS, Hirsch JH, Luthy DA, Hickok D. Mec- kel Gruber sydrome: importance of prenatal diagnosis. J Ultrasound Med 1990; 9-12: 691-6.
- Chen CP. Meckel syndrome: genetics, perinatal findings, and differential diagnosis. Taiwan J Obstet Gynecol 2007;46:9-14.
- Quintero RA, et al. Transabdominal thin-gauge embryofetoscopy: a tech- nique for early prenatal diagnosis and its use in the diagnosis of a case of Meckel-Gruber syndrome. Am J Obstet Gynecol.1993;168:1552-7.
- Parelkar SV Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature. J Pediatr Neurosci. 2013;8:154-7.
- Barisic I. Meckel-Gruber Syndrome: a population-based study on preva- lence, prenatal diagnosis, clinical features, and survival in Europe. Eur J Hum Genet. 2014 Sep 3. doi: 10.1038/ejhg.2014.174.
- Moerman P, et al. The pathology of trisomy 13: a study of 12 cases. Hum Genet. 1988;80:349-56.
Details
| Primary Language | Turkish |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | April 1, 2016 |
| Published in Issue | Year 2016 Volume: 13 Issue: 2 |