[The Meckel syndrome (author's transl)].
The Meckel syndrome is caused by an autosomal recessive gene. The three main features are encephalocele, polycystic kidneys and polydactyly. At least two of these should be present to establish the diagnosis. Several minor symptoms are observed in various combinations. The possibility of prenatal diagnosis is explained by a case report: A neural tube defect was diagnosed by ultrasonography and AFP-assessment in amniotic fluid whereas unfortunately the presence of polycystic kidneys was not recognized sonographically. The methods of today are able to detect the polydactyly but failed in this case. One can suggest that the complete prenatal diagnosis of the Meckel syndrome is not essential for clinical management since the presence of one major symptom will lead to legal abortion. The search for Meckel syndrome is important in cases of delivery of a child with multiple malformations, indicating a genetic counseling for each subsequent pregnancy.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D000653:Amniotic Fluid / Q000032:analysis; D004677:Encephalocele / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005817:Genetic Counseling; D006801:Humans; D008591:Meningomyelocele / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D007690:Polycystic Kidney Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014463:Ultrasonography; D000509:alpha-Fetoproteins / Q000032:analysis
D000509:alpha-Fetoproteins
Das Meckel-Syndrom. Seine Bedeutung für die pränatale Diagnostik und für den Frauenarzt.