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.
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Authors | E G Yapar, E Ekici, M Dogan, O Gökmen |
Journal | Clinical dysmorphology
(Clin Dysmorphol)
Vol. 5
Issue 4
Pg. 357-62
(Oct 1996)
ISSN: 0962-8827 [Print] England |
PMID | 8905203
(Publication Type: Case Reports, Journal Article)
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Topics |
- Abnormalities, Multiple
(diagnostic imaging)
- Dandy-Walker Syndrome
(complications, diagnostic imaging)
- Female
- Humans
- Pregnancy
- Prenatal Diagnosis
- Syndrome
- Ultrasonography
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