[Meckel-Gruber syndrome].
The lethal Meckel-Gruber-Syndrome can be diagnosed prenatally during ultrasound screening between 16 and 20 weeks of pregnancy. Two case reports of Meckel-Gruber-Syndrome are given, which demonstrate the importance of a reliable ultrasound examination. The results supply the basis for an adequate counseling of the patient with the option of pregnancy termination in case of the lethal syndrome.
Flessa
A
A
Universitäts-Frauenklinik Würzburg.
Rempen
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A
Schmausser
B
B
Marx
A
A
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000025:Abortion, Eugenic; D000293:Adolescent; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D004677:Encephalocele / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D017044:Polycystic Kidney, Autosomal Recessive / Q000000981:diagnostic imaging / Q000235:genetics*; D017689:Polydactyly / Q000000981:diagnostic imaging / Q000235:genetics*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D013577:Syndrome; D016216:Ultrasonography, Prenatal
Das Meckel-Gruber-Syndrom.