Meckel‐gruber syndrome: About an evocative case in French Guiana—When ultrasound is insufficient for accurate diagnosis in a complex syndrome

In modern medicine, prenatal diagnosis can no longer be sufficient by ultrasound examination. The genetic technical progress and its contribution may remain a challenge in isolated sites with the consequences that this implies in perinatal health. In modern medicine, prenatal diagnosis can no longer...

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Bibliographic Details
Published in:Clinical case reports 2020-03, Vol.8 (3), p.433-436
Main Authors: Leneuve‐Dorilas, Malika, Ahounkeng Nanda, Patrick, Deshayes, Jean‐Luc
Format: Article
Language:English
Subjects:
Abdomen
Amniocentesis
Case Report
Case Reports
Differential diagnosis
Fetuses
Genetic counseling
Genetic screening
Kidneys
Meckel‐Gruber syndrome
Microcephaly
Mutation
Prenatal diagnosis
Ultrasonic imaging
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Summary:In modern medicine, prenatal diagnosis can no longer be sufficient by ultrasound examination. The genetic technical progress and its contribution may remain a challenge in isolated sites with the consequences that this implies in perinatal health. In modern medicine, prenatal diagnosis can no longer be sufficient by ultrasound examination.The genetic technical progress and its contribution may remain a challenge in isolated sites with the consequences that this implies in perinatal health.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.2593