Meckel-Gruber syndrome concomitant with Dandy-Walker malformation: prenatal sonographic diagnosis in two cases.
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.
Department of High Risk Pregnancy, Doctor Zekai Tahir Burak Women's Hospital, Talatpasa Bulvari, Ankara, Turkey.
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EG
Yapar
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E
Ekici
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M
Dogan
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O
Gökmen
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D003616:Dandy-Walker Syndrome / Q000150:complications* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014463:Ultrasonography