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Meckel-Gruber syndrome concomitant with Dandy-Walker malformation: prenatal sonographic diagnosis in two cases.
Clin Dysmorphol. 1996 Oct; 5(4):357-62.CD

Abstract

Meckel-Gruber syndrome is an autosomal recessive disorder which comprises a characteristic triad of major abnormalities: renal cystic dysplasia, occipital encephalocele, and postaxial polydactyly. Because of the recessive inheritance, prenatal sonographic diagnosis is paramount for informed genetic counselling of affected pregnancies. However, Meckel-Gruber syndrome may demonstrate variation in phenotypic expression when some malformations are different from those traditionally accepted and cases may be evaluated as a different syndrome. The aim of this paper is to emphasise the phenotypic variability in Meckel-Gruber syndrome, and the importance of the prenatal sonography in the diagnosis. We also suggest that Dandy-Walker malformation or Dandy-Walker variant be accepted as one of the malformations which occur in the central nervous system as a part of the syndrome.

Authors+Show Affiliations

Department of High Risk Pregnancy, Doctor Zekai Tahir Burak Women's Hospital, Talatpasa Bulvari, Ankara, Turkey.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8905203

Citation

Yapar, E G., et al. "Meckel-Gruber Syndrome Concomitant With Dandy-Walker Malformation: Prenatal Sonographic Diagnosis in Two Cases." Clinical Dysmorphology, vol. 5, no. 4, 1996, pp. 357-62.
Yapar EG, Ekici E, Dogan M, et al. Meckel-Gruber syndrome concomitant with Dandy-Walker malformation: prenatal sonographic diagnosis in two cases. Clin Dysmorphol. 1996;5(4):357-62.
Yapar, E. G., Ekici, E., Dogan, M., & Gökmen, O. (1996). Meckel-Gruber syndrome concomitant with Dandy-Walker malformation: prenatal sonographic diagnosis in two cases. Clinical Dysmorphology, 5(4), 357-62.
Yapar EG, et al. Meckel-Gruber Syndrome Concomitant With Dandy-Walker Malformation: Prenatal Sonographic Diagnosis in Two Cases. Clin Dysmorphol. 1996;5(4):357-62. PubMed PMID: 8905203.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Meckel-Gruber syndrome concomitant with Dandy-Walker malformation: prenatal sonographic diagnosis in two cases. AU - Yapar,E G, AU - Ekici,E, AU - Dogan,M, AU - Gökmen,O, PY - 1996/10/1/pubmed PY - 1996/10/1/medline PY - 1996/10/1/entrez SP - 357 EP - 62 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 5 IS - 4 N2 - Meckel-Gruber syndrome is an autosomal recessive disorder which comprises a characteristic triad of major abnormalities: renal cystic dysplasia, occipital encephalocele, and postaxial polydactyly. Because of the recessive inheritance, prenatal sonographic diagnosis is paramount for informed genetic counselling of affected pregnancies. However, Meckel-Gruber syndrome may demonstrate variation in phenotypic expression when some malformations are different from those traditionally accepted and cases may be evaluated as a different syndrome. The aim of this paper is to emphasise the phenotypic variability in Meckel-Gruber syndrome, and the importance of the prenatal sonography in the diagnosis. We also suggest that Dandy-Walker malformation or Dandy-Walker variant be accepted as one of the malformations which occur in the central nervous system as a part of the syndrome. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/8905203/Meckel_Gruber_syndrome_concomitant_with_Dandy_Walker_malformation:_prenatal_sonographic_diagnosis_in_two_cases_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=8905203.ui DB - PRIME DP - Unbound Medicine ER -