Prenatal diagnosis of Meckel-Gruber syndrome and Dandy-Walker malformation in four consecutive affected siblings, with the fourth one being diagnosed prenatally at 22 weeks of gestation

Turkish Journal of Pediatrics

Volumn 46, Issue 3, 2004, Pages 283-288

  Balci, Sevim ^a   Tekşen, Fulya ^b   Dökmeci, Fulya ^b   Cengiz, Bora ^b   Cömert, Ruhi Bariş ^a   Can, Bilge ^a   Özdamar, Şükrü ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b ANKARA UNIVERSITY   (Turkey)

Author keywords

Dandy Walker malformation; Four consecutive siblings; Lobar holoprosencephaly; Meckel Gruber syndrome; MRI findings

Indexed keywords

ARTICLE; AUTOPSY; CASE REPORT; CLINICAL OBSERVATION; CONSANGUINITY; CORDOCENTESIS; DANDY WALKER SYNDROME; ECHOGRAPHY; ENCEPHALOCELE; FETUS; GESTATION PERIOD; HOLOPROSENCEPHALY; HUMAN; KARYOTYPE 46,XY; KIDNEY POLYCYSTIC DISEASE; MALE; MECKEL SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYDACTYLY; PREGNANCY; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; SIBLING; THERAPEUTIC ABORTION;

ABNORMALITIES, MULTIPLE; ADULT; DANDY-WALKER SYNDROME; ENCEPHALOCELE; FEMALE; HUMANS; INFANT, NEWBORN; POLYCYSTIC KIDNEY DISEASES; POLYDACTYLY; PREGNANCY; PREGNANCY TRIMESTER, SECOND; SYNDROME; ULTRASONOGRAPHY, PRENATAL;

EID: 4644372511     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

1. Schmidt W, von Host T, Shroeder T, Kubli F. Prenatal diagnosis of Meckel-Gruber's syndrome by ultrasound. Z Geburtshilfe Perinatol 1981; 185: 67-71.
2. Vernekar JA, Mishra GK, Pinto RG, Bhandari M, Mishra M. Antenatal ultrasonic diagnosis of Meckel Gruber syndrome (a case report with review of literature). Australas Radiol 1991; 35: 186-188.
3. Neyberg DA, Hallesy D, Mahony BS, Hirsch JH, Luthy DA, Hickok D. Meckel-Gruber syndrome. Importance of prenatal diagnosis. J Ultrasound Med 1990; 9: 691-696.
4. Balci S, Önal B, Erçal MD, Beksaç S, Erzen C, Akban O. Meckel Gruber syndrome: a case diagnosed in utero. Turk J Pediatr 1992; 34: 179-185.
5. Cincinnati P, Neri ME, Valentini A. Danday-Walker anomaly in Meckel-Gruber syndrome. Clin Dysmorphol 2000; 9: 35-38.
6. Jones KL. Smith's Recognizable Patterns of Human Malformation (5th ed). Philadelphia: WB Saunders; 1997: 184-185.
7. Su SL, Liu CM, Lee JN. Prenatal diagnosis of Meckel-Gruber syndrome case reports. Gaoxiong Yi Xue Ke Xue Za Zhi 1995; 11: 127-132.
8. Ahdab-Barmada M, Classen D. A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome. J Neuropathol Exp Neurol 1990; 49: 610-621.
9. Schmidt W, Kubli F. Early diagnosis of severe congenital malformations by ultrasonograpy. J Perinat Med 1982; 10: 233-241.
10. Farag TI, Usha R, Uma R, Mady SA, al-Nagdy K, el-Badramany. Phenotypic variability in Meckel-Gruber syndrome. Clin Genet 1990; 38: 176-179.
11. Yapar EG, Ekici E, Doǧan M, Gökmen O. Meckel-Gruber syndrome concomitant with Dandy-Walker malformation: prenatal sonographic diagnosis in two cases. Clin Dysmorphol 1996; 5: 357-362.
12. Van Zalen-Sprock RM, van Vugt JM, van Geijn HP. First-trimester sonographic detection of neurodevelopmental abnormalities in some single-gene disorders. Prenat Diagn 1996; 16: 199-202.
13. Flessa A, Rempen A, Schmausser B, Marx A. Meckel-Gruber syndrome. Z Geburtshilfe Neonatol 1996; 2000: 66-68.
14. Braithwaite JM, Economides DL. First-trimester diagnosis of Meckel-Gruber syndrome by transabdominal sonography in a low risk case. Prenat Diagn 1995; 15: 1168-1170.
15. Dumez Y, Domergues M, Gubler MC, et al. Meckel-Guber syndrome: prenatal diagnosis at 10 mensrual weeks using embryoscopy. Prenat Diagn 1994; 14: 141-144.
16. Quintero RA, Abuhamad A, Hobbins JC, Mahoney MJ. Transabdominal thin-gauge embryofetoscopy: a technique for early prenatal diagnosis and its use in the diagnosis of a case of Meckel-Gruber syndrome. Am J Obstet Gynecol 1993; 168: 1552-1557.
17. Szafrako K, Chodkiewicz B, Gajdulewicz M. Meckel-Gruber syndrome. Gnikol Pol 1996; 67: 40-41.
18. Vince JD, Baki M, Chakravarti P. Meckel-Gruber syndrome: report of an affected Papua New Guinean family. PNG Med J 1998; 41: 83-84.
19. Alonso JA, Gomez Castillo E, Arribas M, Luque R, Rubio C. Meckel syndrome. An Esp Pediatr 1979; 12: 403-410.
20. Gallimore AP, Davies PF. Meckel syndrome: prenatal ultrasonographic diagnosis in two cases showing marked differences in phenotypic expression. Australas Radiol 1992; 36: 62-64.
21. Ramadani HM, Nasrat HA. Prenatal diagnosis of recurrent Meckel syndrome. Int J Gynaecol Obstet 1992; 39: 327-332.
22. de Silva D, Suriyawansa D, Mangalika M, Samarasinghe D. Meckel Gruber syndrome-a single gene cause of recurrent neural tube defects. Ceylan Med J 2001; 46: 30.